(Q40546645)

21 September 2017

DIVAS: a centralized genetic variant repository representing 150,000 individuals from multiple disease cohorts (English)

1 reference

21 September 2017

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26363178%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

author name string

Wei-Yi Cheng

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26363178%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Shuyu Dan Li

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26363178%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Rong Chen

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26363178%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

language of work or name

English

0 references

publication date

12 September 2015

1 reference

21 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26363178%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26363178%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26363178%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

page(s)

151-153

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26363178%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial 4.0 International

2 June 2020

copyright license

start time

12 October 2016

1 reference

April 2023 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Unified representation of genetic variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4681987

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4681987

Rare variants in NR2F2 cause congenital heart defects in humans

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4681987

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=4681987

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4681987

CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4681987

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=4681987

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4681987

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=4681987

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4681987

Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4681987

The UMLS Knowledge Source Server: an experience in Web 2.0 technologies.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4681987

Spectrum of heart disease associated with murine and human GATA4 mutation

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4681987

10.1093/BIOINFORMATICS/BTV511

22 September 2017

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26363178%20AND%20SRC:MED&resulttype=core&format=json

journals/bioinformatics/ChengHLC16

2 June 2020

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26363178%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

PubMed publication ID

26363178

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26363178%20AND%20SRC:MED&resulttype=core&format=json