(Q35889147)

10 August 2017

Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts (English)

1 reference

10 August 2017

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26746786%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

author name string

Wei-Yi Cheng

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26746786%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Philippe Thomas

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26746786%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Ying-Chih Wang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26746786%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Andrew V Uzilov

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26746786%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Rong Chen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26746786%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

publication date

8 January 2016

1 reference

10 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26746786%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26746786%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

page(s)

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26746786%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1186/s12859-015-0865-9

10 June 2020

exact match

0 references

cites work

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

SG-ADVISER CNV: copy-number variant annotation and interpretation

27 July 2018

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The InterPro protein families database: the classification resource after 15 years

27 July 2018

1 reference

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OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

27 July 2018

1 reference

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COSMIC: exploring the world's knowledge of somatic mutations in human cancer

27 July 2018

1 reference

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27 July 2018

1 reference

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Mutation extraction tools can be combined for robust recognition of genetic variants in the literature

27 July 2018

1 reference

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CanvasDB: a local database infrastructure for analysis of targeted- and whole genome re-sequencing projects

27 July 2018

1 reference

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A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature

27 July 2018

1 reference

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Choice of transcripts and software has a large effect on variant annotation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

Performance comparison of four exome capture systems for deep sequencing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

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

27 July 2018

1 reference

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Guidelines for investigating causality of sequence variants in human disease

27 July 2018

1 reference

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Clinical interpretation and implications of whole-genome sequencing

27 July 2018

1 reference

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Functional annotation of noncoding sequence variants.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

Managing clinically significant findings in research: the UK10K example

27 July 2018

1 reference

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27 July 2018

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RefSeq: an update on mammalian reference sequences

27 July 2018

1 reference

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

GEMINI: integrative exploration of genetic variation and genome annotations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

PharmGKB: the Pharmacogenomics Knowledge Base

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

Predicting functional effect of human missense mutations using PolyPhen-2.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

DbVar and DGVa: public archives for genomic structural variation

27 July 2018

1 reference

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An integrated encyclopedia of DNA elements in the human genome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

The GNAT library for local and remote gene mention normalization

27 July 2018

1 reference

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

A map of human genome variation from population-scale sequencing

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

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

27 July 2018

1 reference

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Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

27 July 2018

1 reference

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Bioinformatic tools for identifying disease gene and SNP candidates

27 July 2018

1 reference

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

The microRNA.org resource: targets and expression

27 July 2018

1 reference

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Ways toward an early diagnosis in Alzheimer's disease: the Alzheimer's Disease Neuroimaging Initiative (ADNI).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

dbSNP: the NCBI database of genetic variation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

Expansion of ocular phenotypic features associated with mutations in ADAMTS18.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

A SNPshot of PubMed to associate genetic variants with drugs, diseases, and adverse reactions.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

Translational bioinformatics: linking knowledge across biological and clinical realms

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

The characterization of twenty sequenced human genomes

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4706706

10.1186/S12859-015-0865-9

24 September 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26746786%20AND%20SRC:MED&resulttype=core&format=json

journals/bmcbi/HakenbergCTWUC16

10 June 2020

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

Dimensions Publication ID

28 January 2021

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26746786%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26746786%20AND%20SRC:MED&resulttype=core&format=json