(Q36306108)

8 October 2017

Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data (English)

1 reference

8 October 2017

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28288115%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Brad Gulko

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28288115%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

author name string

Adam Siepel

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28288115%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

language of work or name

English

0 references

publication date

13 March 2017

1 reference

8 October 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28288115%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28288115%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28288115%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

618-624

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28288115%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ng.3810

31 May 2020

exact match

0 references

cites work

Basset: learning the regulatory code of the accessible genome with deep convolutional neural networks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

A spectral approach integrating functional genomic annotations for coding and noncoding variants

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

CTCF-Mediated Human 3D Genome Architecture Reveals Chromatin Topology for Transcription.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

ORegAnno 3.0: a community-driven resource for curated regulatory annotation

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

CEGA--a catalog of conserved elements from genomic alignments

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

A global reference for human genetic variation

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Krüppel Expression Levels Are Maintained through Compensatory Evolution of Shadow Enhancers

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Predicting effects of noncoding variants with deep learning-based sequence model

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

CRISPR Inversion of CTCF Sites Alters Genome Topology and Enhancer/Promoter Function

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Predicting the sequence specificities of DNA- and RNA-binding proteins by deep learning

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

A unified architecture of transcriptional regulatory elements

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

The ensembl regulatory build

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Deciphering death: a commentary on Gompertz (1825) 'On the nature of the function expressive of the law of human mortality, and on a new mode of determining the value of life contingencies'.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Integrative analysis of 111 reference human epigenomes

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Enhancer evolution across 20 mammalian species

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

A method for calculating probabilities of fitness consequences for point mutations across the human genome

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

An integrative approach to predicting the functional effects of non-coding and coding sequence variation

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

DIANA-TarBase v7.0: indexing more than half a million experimentally supported miRNA:mRNA interactions.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Analysis of nascent RNA identifies a unified architecture of initiation regions at mammalian promoters and enhancers

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

FunSeq2: a framework for prioritizing noncoding regulatory variants in cancer

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

8.2% of the Human genome is constrained: variation in rates of turnover across functional element classes in the human lineage

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

An atlas of active enhancers across human cell types and tissues

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Functional annotation of noncoding sequence variants.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

A general framework for estimating the relative pathogenicity of human genetic variants

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

ClinVar: public archive of relationships among sequence variation and human phenotype

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Genome-wide inference of natural selection on human transcription factor binding sites

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Whole-Genome rVISTA: a tool to determine enrichment of transcription factor binding sites in gene promoters from transcriptomic data

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Inference of natural selection from interspersed genomic elements based on polymorphism and divergence

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

SwissRegulon, a database of genome-wide annotations of regulatory sites: recent updates

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

GENCODE: the reference human genome annotation for The ENCODE Project

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

An integrated encyclopedia of DNA elements in the human genome

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Analysis of variation at transcription factor binding sites in Drosophila and humans

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

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

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Integrative analysis of the Caenorhabditis elegans genome by the modENCODE project

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Identification of functional elements and regulatory circuits by Drosophila modENCODE

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

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

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Massive turnover of functional sequence in human and other mammalian genomes

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Detection of nonneutral substitution rates on mammalian phylogenies

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Identifying novel constrained elements by exploiting biased substitution patterns

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

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

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Sequencing and comparative analysis of a conserved syntenic segment in the Solanaceae

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Selective constraints in experimentally defined primate regulatory regions.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Patterns of positive selection in six Mammalian genomes

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

A map of recent positive selection in the human genome

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Why highly expressed proteins evolve slowly

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Initial sequencing and comparative analysis of the mouse genome

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

The human genome browser at UCSC

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Comparing the areas under two or more correlated receiver operating characteristic curves: a nonparametric approach

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

ppcor: An R Package for a Fast Calculation to Semi-partial Correlation Coefficients

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

An atlas of over 90,000 conserved noncoding sequences provides insight into crucifer regulatory regions.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

The share of human genomic DNA under selection estimated from human-mouse genomic alignments.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5395419

Learning representations by back-propagating errors

22 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3810

inferred from DOI database lookup

7 January 2021

based on heuristic

Determinants of substitution rates in mammalian genes: expression pattern affects selection intensity but not mutation rate

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3810

inferred from DOI database lookup

7 January 2021

based on heuristic

On the Nature of the Function Expressive of the Law of Human Mortality, and on a New Mode of Determining the Value of Life Contingencies

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3810

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.3810

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28288115%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

31 May 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28288115%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference