Identifying Mendelian disease genes with the variant effect scoring tool (Q34790685)

4 August 2017

title

Identifying Mendelian disease genes with the variant effect scoring tool (English)

1 reference

4 August 2017

4

David N Cooper

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4 August 2017

Hannah Carter

1

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4 August 2017

Christopher Douville

series ordinal

2

1 reference

4 August 2017

Peter D Stenson

series ordinal

3

1 reference

4 August 2017

Rachel Karchin

series ordinal

5

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4 August 2017

language of work or name

English

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publication date

28 May 2013

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4 August 2017

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4 August 2017

volume

14 Suppl 3

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4 August 2017

page(s)

S3

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Consensus rules in variant detection from next-generation sequencing data

4 August 2017

cites work

1 reference

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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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

8 July 2018

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The UCSC Genome Browser database: update 2011

8 July 2018

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Exome sequencing in Brown-Vialetto-van Laere syndrome

8 July 2018

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Signatures of positive selection apparent in a small sample of human exomes

8 July 2018

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MutationTaster evaluates disease-causing potential of sequence alterations

8 July 2018

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

8 July 2018

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A method and server for predicting damaging missense mutations

8 July 2018

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Exome sequencing identifies the cause of a mendelian disorder

8 July 2018

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Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

8 July 2018

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

8 July 2018

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Targeted capture and massively parallel sequencing of 12 human exomes

8 July 2018

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Cancer-specific high-throughput annotation of somatic mutations: computational prediction of driver missense mutations

8 July 2018

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

8 July 2018

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8 July 2018

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Fast and accurate short read alignment with Burrows-Wheeler transform

8 July 2018

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Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665549

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8 July 2018

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8 July 2018

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8 July 2018

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

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665549

Predicting the effects of amino acid substitutions on protein function

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665549

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

8 July 2018

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Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity

8 July 2018

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8 July 2018

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8 July 2018

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Comparison of DNA sequences with protein sequences.

8 July 2018

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Identification and analysis of deleterious human SNPs.

8 July 2018

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The Human Gene Mutation Database: 2008 update

21 January 2018

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https://api.crossref.org/works/10.1186%2F1471-2164-14-S3-S3

Using mutual information for selecting features in supervised neural net learning.

21 January 2018

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https://api.crossref.org/works/10.1186%2F1471-2164-14-S3-S3

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

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https://api.crossref.org/works/10.1186%2F1471-2164-14-S3-S3

A new disease-specific machine learning approach for the prediction of cancer-causing missense variants

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665549

10.1186/1471-2164-14-S3-S3

26 October 2018

Identifiers

DOI

1 reference

4 August 2017

1 reference

4 August 2017

1 reference