(Q34125655)

31 July 2017

title

An integrative variant analysis suite for whole exome next-generation sequencing data (English)

1 reference

31 July 2017

Jin Yu

2

0 references

Aleksandar Milosavljevic

7

object named as

Aleksandar Milosavljevic

1 reference

31 July 2017

8

Richard A Gibbs

1 reference

31 July 2017

Danny Challis

1

1 reference

31 July 2017

Uday S Evani

3

1 reference

31 July 2017

Andrew R Jackson

4

1 reference

31 July 2017

Sameer Paithankar

5

1 reference

31 July 2017

Cristian Coarfa

6

1 reference

31 July 2017

Fuli Yu

9

1 reference

31 July 2017

publication date

12 January 2012

1 reference

31 July 2017

1 reference

31 July 2017

volume

13

1 reference

31 July 2017

page(s)

8

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2105-13-8

31 July 2017

exact match

0 references

cites work

The functional spectrum of low-frequency coding variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292476

The variant call format and VCFtools

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292476

Natural genetic variation caused by small insertions and deletions in the human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292476

A map of human genome variation from population-scale sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292476

Dindel: accurate indel calls from short-read data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292476

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292476

Whole exome capture in solution with 3 Gbp of data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292476

A method and server for predicting damaging missense mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292476

Exome sequencing identifies the cause of a mendelian disorder

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292476

Targeted capture and massively parallel sequencing of 12 human exomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292476

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292476

The Sequence Alignment/Map format and SAMtools

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292476

Direct selection of human genomic loci by microarray hybridization

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292476

SIFT: Predicting amino acid changes that affect protein function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292476

Prediction of deleterious human alleles

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292476

An SNP map of the human genome generated by reduced representation shotgun sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3292476

A SNP discovery method to assess variant allele probability from next-generation resequencing data

28 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2105-13-8

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2105-13-8

21 January 2018

Identifiers

DOI

10.1186/1471-2105-13-8

1 reference

journals/bmcbi/ChallisYEJPCMGY12

31 July 2017

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

Dimensions Publication ID

28 January 2021

1005761682

0 references

Fatcat ID

release_v7qr466qabgsvishzpoy5izgwe

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/v7qr466qabgsvishzpoy5izgwe

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

3292476

1 reference

31 July 2017

1 reference