(Q36988784)

17 August 2017

9 references

30 June 2019

22 July 2019

14 September 2019

19 September 2019

23 July 2020

10 September 2020

19 November 2020

15 December 2020

1 May 2021

Interpreting noncoding genetic variation in complex traits and human disease (English)

1 reference

preventive health services

17 August 2017

1 reference

22 July 2019

1 reference

14 September 2019

biomedical investigative technique

1 reference

genetic predisposition to disease

19 September 2019

1 reference

23 July 2020

1 reference

19 November 2020

2 references

15 December 2020

1 May 2021

1 reference

1

1 reference

17 August 2017

2

Manolis Kellis

1 reference

17 August 2017

8 November 2012

1 reference

PMCID

3703467

17 August 2017

1 November 2012

8 references

30 June 2019

22 July 2019

14 September 2019

19 September 2019

23 July 2020

19 November 2020

15 December 2020

1 May 2021

9 references

17 August 2017

30 June 2019

22 July 2019

14 September 2019

19 September 2019

23 July 2020

19 November 2020

15 December 2020

1 May 2021

30

1 reference

17 August 2017

1095-1106

1 reference

17 August 2017

11

1 reference

https://scigraph.springernature.com/pub.10.1038/nbt.2422

17 August 2017

0 references

cites work

Breast cancer risk-associated SNPs modulate the affinity of chromatin for FOXA1 and alter gene expression

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Annotation of functional variation in personal genomes using RegulomeDB

29 September 2017

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Linking disease associations with regulatory information in the human genome

29 September 2017

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Systematic localization of common disease-associated variation in regulatory DNA

29 September 2017

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Architecture of the human regulatory network derived from ENCODE data

29 September 2017

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An integrated encyclopedia of DNA elements in the human genome

29 September 2017

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29 September 2017

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Inferring gene regulatory logic from high-throughput measurements of thousands of systematically designed promoters

29 September 2017

1 reference

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Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

29 September 2017

1 reference

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A genome-wide screen in human embryonic stem cells reveals novel sites of allele-specific histone modification associated with known disease loci

29 September 2017

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Matrix eQTL: ultra fast eQTL analysis via large matrix operations

29 September 2017

1 reference

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The predictive capacity of personal genome sequencing

29 September 2017

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The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity

29 September 2017

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Personal omics profiling reveals dynamic molecular and medical phenotypes

29 September 2017

1 reference

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Systematic dissection and optimization of inducible enhancers in human cells using a massively parallel reporter assay

29 September 2017

1 reference

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Massively parallel functional dissection of mammalian enhancers in vivo

29 September 2017

1 reference

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A systematic survey of loss-of-function variants in human protein-coding genes

29 September 2017

1 reference

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DNase I sensitivity QTLs are a major determinant of human expression variation

29 September 2017

1 reference

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Six Degrees of Epistasis: Statistical Network Models for GWAS

29 September 2017

1 reference

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Rare and common variants: twenty arguments

29 September 2017

1 reference

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The mystery of missing heritability: Genetic interactions create phantom heritability

29 September 2017

1 reference

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Comprehensive genome-wide protein-DNA interactions detected at single-nucleotide resolution

29 September 2017

1 reference

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Statistical analysis of rare sequence variants: an overview of collapsing methods

29 September 2017

1 reference

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Construction and analysis of an integrated regulatory network derived from high-throughput sequencing data

29 September 2017

1 reference

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HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

29 September 2017

1 reference

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Epigenome characterization at single base-pair resolution.

29 September 2017

1 reference

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The evolution of gene expression levels in mammalian organs

29 September 2017

1 reference

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A high-resolution map of human evolutionary constraint using 29 mammals

29 September 2017

1 reference

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Epistatic selection between coding and regulatory variation in human evolution and disease

29 September 2017

1 reference

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Using Electronic Patient Records to Discover Disease Correlations and Stratify Patient Cohorts

29 September 2017

1 reference

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Genetic risk prediction in complex disease

29 September 2017

1 reference

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Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

29 September 2017

1 reference

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AlleleSeq: analysis of allele-specific expression and binding in a network framework

29 September 2017

1 reference

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Epigenome-wide association studies for common human diseases

29 September 2017

1 reference

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A probabilistic disease-gene finder for personal genomes.

29 September 2017

1 reference

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Family-based designs for genome-wide association studies

29 September 2017

1 reference

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Using functional annotation for the empirical determination of Bayes Factors for genome-wide association study analysis

29 September 2017

1 reference

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Molecular signatures database (MSigDB) 3.0.

29 September 2017

1 reference

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Prioritizing candidate disease genes by network-based boosting of genome-wide association data.

29 September 2017

1 reference

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Mapping and analysis of chromatin state dynamics in nine human cell types

29 September 2017

1 reference

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From Galton to GWAS: quantitative genetics of human height

29 September 2017

1 reference

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A genome-wide study of DNA methylation patterns and gene expression levels in multiple human and chimpanzee tissues.

29 September 2017

1 reference

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Classic selective sweeps were rare in recent human evolution

29 September 2017

1 reference

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Initial impact of the sequencing of the human genome

29 September 2017

1 reference

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The architecture of gene regulatory variation across multiple human tissues: the MuTHER study

29 September 2017

1 reference

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The importance of synthetic associations will only be resolved empirically

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Chromatin accessibility pre-determines glucocorticoid receptor binding patterns.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

The emerging role of electronic medical records in pharmacogenomics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Identification of functional elements and regulatory circuits by Drosophila modENCODE

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

The study of eQTL variations by RNA-seq: from SNPs to phenotypes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Analysing biological pathways in genome-wide association studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

A map of human genome variation from population-scale sequencing

29 September 2017

1 reference

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The NIH Roadmap Epigenomics Mapping Consortium

29 September 2017

1 reference

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Statistical analysis strategies for association studies involving rare variants

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Hundreds of variants clustered in genomic loci and biological pathways affect human height

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Genome-wide analysis of a long-term evolution experiment with Drosophila

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Massive turnover of functional sequence in human and other mammalian genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Discovery and characterization of chromatin states for systematic annotation of the human genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

An 8q24 gene desert variant associated with prostate cancer risk confers differential in vivo activity to a MYC enhancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Common SNPs explain a large proportion of the heritability for human height

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Uncovering the roles of rare variants in common disease through whole-genome sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Deciphering the splicing code

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Genomics of long-range regulatory elements

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Five-vertebrate ChIP-seq reveals the evolutionary dynamics of transcription factor binding

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Has the revolution arrived?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

A method and server for predicting damaging missense mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Heritable individual-specific and allele-specific chromatin signatures in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Variation in transcription factor binding among humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Understanding mechanisms underlying human gene expression variation with RNA sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

The genetic landscape of a cell

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Prioritizing GWAS results: A review of statistical methods and recommendations for their application

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

A composite of multiple signals distinguishes causal variants in regions of positive selection

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

An oestrogen-receptor-α-bound human chromatin interactome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Global patterns of cis variation in human cells revealed by high-density allelic expression analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Comprehensive mapping of long-range interactions reveals folding principles of the human genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Finding the missing heritability of complex diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Genomic views of distant-acting enhancers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

ChIP-seq: advantages and challenges of a maturing technology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

The promise and reality of personal genomics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

The role of geography in human adaptation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Detecting gene-gene interactions that underlie human diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Global mapping of protein-DNA interactions in vivo by digital genomic footprinting

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Evolution and functions of long noncoding RNAs

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Chromatin signature reveals over a thousand highly conserved large non-coding RNAs in mammals

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

The repertoire and dynamics of evolutionary adaptations to controlled nutrient-limited environments in yeast

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Genetic architecture of complex traits: large phenotypic effects and pervasive epistasis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

High-resolution mapping of expression-QTLs yields insight into human gene regulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

A combinatorial approach to detecting gene-gene and gene-environment interactions in family studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Integrating large-scale functional genomic data to dissect the complexity of yeast regulatory networks

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Exploiting the proteome to improve the genome-wide genetic analysis of epistasis in common human diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Data and theory point to mainly additive genetic variance for complex traits

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Splicing regulation: from a parts list of regulatory elements to an integrated splicing code

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Genome-wide mapping of allele-specific protein-DNA interactions in human cells.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Genetics of gene expression and its effect on disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Polymorphism Interaction Analysis (PIA): a method for investigating complex gene-gene interactions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

High-resolution mapping and characterization of open chromatin across the genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Discovery of functional elements in 12 Drosophila genomes using evolutionary signatures

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Hirschsprung disease, associated syndromes and genetics: a review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Harnessing naturally randomized transcription to infer regulatory relationships among genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

The tell-tale heart: population-based surveillance reveals an association of rofecoxib and celecoxib with myocardial infarction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

PLINK: a tool set for whole-genome association and population-based linkage analyses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Imputation-based analysis of association studies: candidate regions and quantitative traits

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Enriching the analysis of genomewide association studies with hierarchical modeling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Widely distributed noncoding purifying selection in the human genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

A new multipoint method for genome-wide association studies by imputation of genotypes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Predictive modeling of genome-wide mRNA expression: from modules to molecules

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Detection of gene x gene interactions in genome-wide association studies of human population data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Mapping trait loci by use of inferred ancestral recombination graphs

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Principal components analysis corrects for stratification in genome-wide association studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Positive natural selection in the human lineage

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Microarray analysis and tumor classification

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Linear models and empirical bayes methods for assessing differential expression in microarray experiments

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

SNPs3D: candidate gene and SNP selection for association studies.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Reduced representation bisulfite sequencing for comparative high-resolution DNA methylation analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Sequence variants in SLITRK1 are associated with Tourette's syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Are splicing mutations the most frequent cause of hereditary disease?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Molecular biology and genetics of Alzheimer's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Systematic discovery of regulatory motifs in human promoters and 3' UTRs by comparison of several mammals

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Assessing computational tools for the discovery of transcription factor binding sites

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Regulatory polymorphisms underlying complex disease traits

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

MONKEY: identifying conserved transcription-factor binding sites in multiple alignments using a binding site-specific evolutionary model

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Long-range control of gene expression: emerging mechanisms and disruption in disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

The role of heme oxygenase-1 promoter polymorphisms in human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

CCR5 promoter alleles and specific DNA binding factors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Methods for high-density admixture mapping of disease genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

The International HapMap Project

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

SIFT: Predicting amino acid changes that affect protein function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Sequencing and comparison of yeast species to identify genes and regulatory elements

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Phenylketonuria mutations in Europe

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Pre-mRNA splicing and human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Human non-synonymous SNPs: server and survey

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Evolution of transcription factor binding sites in Mammalian gene regulatory regions: conservation and turnover

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Alternative splicing: multiple control mechanisms and involvement in human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

A genomic regulatory network for development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Capturing chromosome conformation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Translational pathophysiology: a novel molecular mechanism of human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Genetic acceleration of AIDS progression by a promoter variant of CCR5.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Construction of a genetic linkage map in man using restriction fragment length polymorphisms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

29 September 2017

Non-Darwinian Evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Evolutionary Rate at the Molecular Level

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Mapping mendelian factors underlying quantitative traits using RFLP linkage maps

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

The human genome project: past, present, and future

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Transcriptional enhancers in development and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Using biological networks to search for interacting loci in genome-wide association studies

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Evidence of abundant purifying selection in humans for recently acquired regulatory functions

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

BLUEPRINT to decode the epigenetic signature written in blood.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Functional genomics: The changes that count.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Epigenetics as a unifying principle in the aetiology of complex traits and diseases.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

An agenda for personalized medicine

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Association mapping of complex diseases with ancestral recombination graphs: models and efficient algorithms.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Hierarchical Bayes prioritization of marker associations from a genome-wide association scan for further investigation

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Conservation patterns in different functional sequence categories of divergent Drosophila species.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Predicting gene expression from sequence.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Genetic basis of individual differences in the response to small-molecule drugs in yeast

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3703467

So much "junk" DNA in our genome

4 December 2018

1 reference

12 December 2020

Genomic surveys by methylation-sensitive SNP analysis identify sequence-dependent allele-specific DNA methylation

1 reference

12 December 2020

Genetic risk prediction--are we there yet?

1 reference

12 December 2020

Mendelian randomization: Using genes as instruments for making causal inferences in epidemiology

1 reference

12 December 2020

From human genetics and genomics to pharmacogenetics and pharmacogenomics: past lessons, future directions

1 reference

12 December 2020

1 reference

12 December 2020

The Correlation between Relatives on the Supposition of Mendelian Inheritance

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNBT.2422

7 January 2021

inferred from DOI database lookup

Computational neuroanatomy of speech production.

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNBT.2422

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NBT.2422

1 reference

17 August 2017

1 reference

17 August 2017

1 reference

PMCID

3703467