(Q37342106)

19 August 2017

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

1 reference

19 August 2017

36

1 reference

19 August 2017

35

Trevor Hastie

1 reference

19 August 2017

32

Zsofia Kote-Jarai

1 reference

19 August 2017

18

Johanna Schleutker

1 reference

19 August 2017

38

Predrag Radivojac

1 reference

19 August 2017

Nilah M Ioannidis

1

0 references

Robert J MacInnis

Robert J MacInnis

24

0 references

Sumit Middha

Sumit Middha

4

0 references

Geraldine Cancel-Tassin

Geraldine Cancel-Tassin

22

0 references

Shannon K McDonnell

Shannon K McDonnell

5

0 references

Joan Bailey-Wilson

Joan E Bailey-Wilson

37

0 references

Kathleen A. Cooney

Kathleen A Cooney

16

0 references

Olivier Cussenot

Olivier Cussenot

21

0 references

Rosalind Eeles

Rosalind A Eeles

31

0 references

Graham Giles

23

Graham G Giles

1 reference

19 August 2017

15

Jianfeng Xu

1 reference

19 August 2017

William David Foulkes

29

William D Foulkes

1 reference

19 August 2017

27

Fredrik Wiklund

1 reference

19 August 2017

39

Stephen N Thibodeau

1 reference

19 August 2017

33

Carlos D Bustamante

1 reference

19 August 2017

14

William B Isaacs

1 reference

19 August 2017

40

Alice S Whittemore

1 reference

19 August 2017

13

Janet L Stanford

1 reference

19 August 2017

41

Weiva Sieh

1 reference

19 August 2017

19

John D Carpten

1 reference

19 August 2017

11

Lisa A Cannon-Albright

1 reference

19 August 2017

10

Danielle Karyadi

1 reference

19 August 2017

28

William J Catalona

1 reference

19 August 2017

30

Diptasri Mandal

1 reference

19 August 2017

26

Chih-Lin Hsieh

1 reference

19 August 2017

6

Saurabh Baheti

1 reference

19 August 2017

12

Craig C Teerlink

1 reference

19 August 2017

Joseph H Rothstein

2

1 reference

19 August 2017

Vikas Pejaver

3

1 reference

19 August 2017

Anthony Musolf

7

1 reference

19 August 2017

Qing Li

8

1 reference

19 August 2017

Emily Holzinger

9

1 reference

19 August 2017

Ethan M Lange

17

1 reference

19 August 2017

Isaac J Powell

20

1 reference

19 August 2017

Christiane Maier

25

1 reference

19 August 2017

Daniel J Schaid

34

1 reference

19 August 2017

language of work or name

English

0 references

publication date

21 September 2016

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

99

1 reference

19 August 2017

4

1 reference

19 August 2017

877-885

1 reference

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

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

ClinVar: public archive of interpretations of clinically relevant variants

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

PON-P2: prediction method for fast and reliable identification of harmful variants

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

A systematic approach to assessing the clinical significance of genetic variants.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

Towards precision medicine: advances in computational approaches for the analysis of human variants

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

Selective constraint, background selection, and mutation accumulation variability within and between human populations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

Identifying Mendelian disease genes with the variant effect scoring tool

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

Collective judgment predicts disease-associated single nucleotide variants

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

Predicting the functional effect of amino acid substitutions and indels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

GENCODE: the reference human genome annotation for The ENCODE Project

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

PON-P: integrated predictor for pathogenicity of missense variants

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

Exome sequencing as a tool for Mendelian disease gene discovery

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

Predicting the functional impact of protein mutations: application to cancer genomics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

UniProt Knowledgebase: a hub of integrated protein data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

pROC: an open-source package for R and S+ to analyze and compare ROC curves

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

MutationTaster evaluates disease-causing potential of sequence alterations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

A method and server for predicting damaging missense mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

Detection of nonneutral substitution rates on mammalian phylogenies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

Automated inference of molecular mechanisms of disease from amino acid substitutions.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

Identification of deleterious mutations within three human genomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

Identifying novel constrained elements by exploiting biased substitution patterns

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

ROCR: visualizing classifier performance in R

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

Missing value estimation methods for DNA microarrays

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

The Atherosclerosis Risk in Communities (ARIC) Study: design and objectives. The ARIC investigators

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

A combined functional annotation score for non-synonymous variants

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

Predicting the functional consequences of non-synonymous DNA sequence variants--evaluation of bioinformatics tools and development of a consensus strategy.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5065685

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27666373

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2016.08.016

1 reference

19 August 2017

1 reference

19 August 2017

1 reference