(Q52544730)

14 June 2018

title

Settling the score: variant prioritization and Mendelian disease. (English)

1 reference

14 June 2018

1 reference

Karen Eilbeck

1

1 reference

14 June 2018

Aaron Quinlan

series ordinal

2

1 reference

14 June 2018

Mark Yandell

series ordinal

3

1 reference

14 June 2018

publication date

14 August 2017

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14 June 2018

published in

Nature Reviews Genetics

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14 June 2018

volume

18

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14 June 2018

issue

10

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14 June 2018

page(s)

599-612

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14 June 2018

Long-read genome sequencing identifies causal structural variation in a Mendelian disease.

cites work

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16 June 2018

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16 June 2018

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Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis

16 June 2018

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REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

16 June 2018

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A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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Using ClinVar as a Resource to Support Variant Interpretation

16 June 2018

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Frequency and Complexity of De Novo Structural Mutation in Autism

16 June 2018

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HGVS Recommendations for the Description of Sequence Variants: 2016 Update

16 June 2018

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A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.

16 June 2018

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ClinVar: public archive of interpretations of clinically relevant variants

16 June 2018

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Next-generation diagnostics and disease-gene discovery with the Exomiser

16 June 2018

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An integrated map of structural variation in 2,504 human genomes

16 June 2018

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A global reference for human genetic variation

16 June 2018

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Improving the Sequence Ontology terminology for genomic variant annotation

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Phenotype-driven strategies for exome prioritization of human Mendelian disease genes

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Phenolyzer: phenotype-based prioritization of candidate genes for human diseases

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Homozygous loss-of-function variants in European cosmopolitan and isolate populations

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

ClinGen--the Clinical Genome Resource

16 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

16 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

16 June 2018

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

16 June 2018

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Rare variant association studies: considerations, challenges and opportunities

16 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Extending reference assembly models

16 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

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

16 June 2018

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TBX6 null variants and a common hypomorphic allele in congenital scoliosis

16 June 2018

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FLAGS, frequently mutated genes in public exomes

16 June 2018

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Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome

16 June 2018

1 reference

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From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Genenames.org: the HGNC resources in 2015

16 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

VariantDB: a flexible annotation and filtering portal for next generation sequencing data

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

A framework for the interpretation of de novo mutation in human disease

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Rare-variant association analysis: study designs and statistical tests

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Exposing synonymous mutations

16 June 2018

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Multiple evidence strands suggest that there may be as few as 19,000 human protein-coding genes

16 June 2018

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Genetic basis of limb-girdle muscular dystrophies: the 2014 update

16 June 2018

1 reference

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A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.

16 June 2018

1 reference

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Variant association tools for quality control and analysis of large-scale sequence and genotyping array data

16 June 2018

1 reference

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Using VAAST to Identify Disease-Associated Variants in Next-Generation Sequencing Data

16 June 2018

1 reference

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Guidelines for investigating causality of sequence variants in human disease

16 June 2018

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Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families

16 June 2018

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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

16 June 2018

1 reference

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Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

16 June 2018

1 reference

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

16 June 2018

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16 June 2018

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eXtasy: variant prioritization by genomic data fusion.

16 June 2018

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Genic intolerance to functional variation and the interpretation of personal genomes

16 June 2018

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16 June 2018

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16 June 2018

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A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient

16 June 2018

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VAAST 2.0: improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix

16 June 2018

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16 June 2018

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Challenges in homology search: HMMER3 and convergent evolution of coiled-coil regions

16 June 2018

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16 June 2018

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Predicting functional effect of human missense mutations using PolyPhen-2.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

DbVar and DGVa: public archives for genomic structural variation

16 June 2018

1 reference

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An integrated map of genetic variation from 1,092 human genomes

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Ichthyosis bullosa of Siemens

16 June 2018

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Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variation

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models

16 June 2018

1 reference

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An integrated encyclopedia of DNA elements in the human genome

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies

16 June 2018

1 reference

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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

16 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Truncations of titin causing dilated cardiomyopathy.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Exome sequencing as a tool for Mendelian disease gene discovery

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

What fraction of the human genome is functional?

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

A probabilistic disease-gene finder for personal genomes.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

The variant call format and VCFtools

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

A framework for variation discovery and genotyping using next-generation DNA sequencing data

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Population genetics of malaria resistance in humans

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Genome structural variation discovery and genotyping

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Keratin gene mutations in disorders of human skin and its appendages

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Huntington's disease: from molecular pathogenesis to clinical treatment

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

A map of human genome variation from population-scale sequencing

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

A novel adaptive method for the analysis of next-generation sequencing data to detect complex trait associations with rare variants due to gene main effects and interactions

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Powerful SNP-set analysis for case-control genome-wide association studies

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Pooled association tests for rare variants in exon-resequencing studies

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Between a chicken and a grape: estimating the number of human genes

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

A method and server for predicting damaging missense mutations

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Detection of nonneutral substitution rates on mammalian phylogenies

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Quantitative measures for the management and comparison of annotated genomes

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

A groupwise association test for rare mutations using a weighted sum statistic

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

A "silent" polymorphism in the MDR1 gene changes substrate specificity

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

The Sequence Ontology: a tool for the unification of genome annotations

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Sequence variation at the human ABO locus.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Predicting deleterious amino acid substitutions

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

dbSNP: the NCBI database of genetic variation

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Cystic Fibrosis Heterozygote Resistance to Cholera Toxin in the Cystic Fibrosis Mouse Model

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

bam.iobio: a web-based, real-time, sequence alignment file inspector

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Phen-Gen: combining phenotype and genotype to analyze rare disorders

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

MutationTaster2: mutation prediction for the deep-sequencing age.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary structure.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

A rare case of small bowel volvulus after jenjunoileal bariatric bypass requiring emergency surgery: a case report

13 August 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.52

Identification of Misclassified ClinVar Variants via Disease Population Prevalence

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5935497

Identification of misclassified ClinVar variants using disease population prevalence

2 November 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.52

Human Gene Mutation Database?A biomedical information and research resource

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.52

The case for locus-specific databases

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRG.2017.52

31 March 2020

Identifiers

DOI

10.1038/NRG.2017.52

1 reference

14 June 2018

Dimensions Publication ID

0 references

1 reference

14 June 2018

PubMed publication ID

28804138

1 reference

14 June 2018