(Q40518007)

21 September 2017

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

1 reference

21 September 2017

5

1 reference

21 September 2017

7

1 reference

21 September 2017

3

Julian Gough

1 reference

21 September 2017

4

Matthew Mort

1 reference

21 September 2017

Hashem A Shihab

1

1 reference

21 September 2017

Mark F Rogers

series ordinal

2

1 reference

21 September 2017

Ian N M Day

series ordinal

6

1 reference

21 September 2017

Colin Campbell

series ordinal

8

1 reference

21 September 2017

language of work or name

English

0 references

publication date

11 January 2015

1 reference

21 September 2017

1 reference

21 September 2017

31

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21 September 2017

10

1 reference

21 September 2017

1536-1543

1 reference

Creative Commons Attribution 4.0 International

21 September 2017

start time

1 October 2016

1 reference

April 2023 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Ranking non-synonymous single nucleotide polymorphisms based on disease concepts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426838

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426838

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426838

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426838

A brief review on the Human Encyclopedia of DNA Elements (ENCODE) project

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426838

Predicting the functional consequences of cancer-associated amino acid substitutions

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426838

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426838

An integrated encyclopedia of DNA elements in the human genome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426838

Tabix: fast retrieval of sequence features from generic TAB-delimited files

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426838

A map of human genome variation from population-scale sequencing

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426838

Enhanced protein fold recognition through a novel data integration approach

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426838

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426838

Functional annotation of noncoding sequence variants.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426838

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

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426838

Performance of mutation pathogenicity prediction methods on missense variants

15 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTV009

10.1093/BIOINFORMATICS/BTV009

21 January 2018

Identifiers

DOI

1 reference

journals/bioinformatics/ShihabRGMCDGC15

21 September 2017

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

21 September 2017

1 reference