(Q34558011)

3 August 2017

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

1 reference

3 August 2017

Miao-Xin Li

1

1 reference

3 August 2017

Johnny S H Kwan

2

1 reference

3 August 2017

Su-Ying Bao

3

1 reference

3 August 2017

Wanling Yang

4

1 reference

3 August 2017

Shu-Leong Ho

5

1 reference

3 August 2017

Yong-Qiang Song

6

1 reference

3 August 2017

Pak C Sham

7

1 reference

3 August 2017

17 January 2013

1 reference

3 August 2017

1 reference

3 August 2017

9

1 reference

3 August 2017

1

1 reference

3 August 2017

e1003143

1 reference

Creative Commons Attribution 4.0 International

3 August 2017

start time

17 January 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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1 reference

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

7 July 2018

1 reference

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A combined functional annotation score for non-synonymous variants

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

SVA: software for annotating and visualizing sequenced human genomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

7 July 2018

1 reference

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MutationTaster evaluates disease-causing potential of sequence alterations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

A method and server for predicting damaging missense mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

Targeted capture and massively parallel sequencing of 12 human exomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

Identification of deleterious mutations within three human genomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

Fast and accurate short read alignment with Burrows-Wheeler transform

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

Predicting the effects of amino acid substitutions on protein function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

Differences in the evolutionary history of disease genes affected by dominant or recessive mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

AN ESTIMATE OF THE MUTATIONAL DAMAGE IN MAN FROM DATA ON CONSANGUINEOUS MARRIAGES

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

Galaxy: a platform for interactive large-scale genome analysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

Distribution and intensity of constraint in mammalian genomic sequence

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

A method of estimating the frequency of abnormal autosomal recessive genes in man

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

Consanguineous marriages in the Chicago region

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

Estimation of the inbreeding coefficient through use of genomic data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

Dosage sensitivity and the evolution of gene families in yeast

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

Brother-sister marriage in Roman Egypt

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

The costs of human inbreeding and their implications for variations at the DNA level

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

Contamination of the genome by very slightly deleterious mutations: why have we not died 100 times over?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

The mutation load in an African population. I. An analysis of consanguineous marriages in Nigeria.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

Comparison of the predicted and observed secondary structure of T4 phage lysozyme

7 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

7 July 2018

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003143

The Human Gene Mutation Database: 2008 update

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003143

Highly consistent patterns for inherited human diseases at the molecular level.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003143

Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3547823

27 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003143

Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23341771

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Dominant modifier DFNM1 suppresses recessive deafness DFNB26

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23341771

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1003143

1 reference

3 August 2017

1 reference

3 August 2017

1 reference