WGSA: an annotation pipeline for human genome sequencing studies. (Q37443283)

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24 February 2020

title

WGSA: an annotation pipeline for human genome sequencing studies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26395054%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

main subject

whole genome sequencing

1 reference

2

1 reference

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24 February 2020

Bo Peng

3

1 reference

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24 February 2020

Peng Wei

9

1 reference

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24 February 2020

Robert J Klein

11

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24 February 2020

5

Jennifer A Brody

1 reference

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24 February 2020

12

Eric Boerwinkle

1 reference

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24 February 2020

4

Andrew D Johnson

1 reference

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24 February 2020

10

Richard Gibbs

1 reference

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24 February 2020

author name string

Xiaoming Liu

1

1 reference

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24 February 2020

Alexander H Li

6

1 reference

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24 February 2020

Zhuoyi Huang

7

1 reference

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24 February 2020

Andrew Carroll

8

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24 February 2020

language of work or name

English

0 references

publication date

22 September 2015

1 reference

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Journal of Medical Genetics

24 February 2020

published in

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volume

53

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24 February 2020

issue

2

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24 February 2020

page(s)

111-112

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24 February 2020

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5124490

RefSeq: an update on mammalian reference sequences

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5124490

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5124490

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5124490

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5124490

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5124490

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5124490

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5124490

10.1136/JMEDGENET-2015-103423

26 June 2018

Identifiers

DOI

1 reference

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24 February 2020

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24 February 2020

PubMed publication ID

26395054

1 reference