(Q30560796)

13 August 2017

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling (English)

1 reference

13 August 2017

1

1 reference

PubMed publication ID

24 June 2017

Kin Y Mok

4

0 references

Siobhan O Burns

Siobhan O Burns

9

0 references

Adrian Thrasher

Adrian J Thrasher

10

0 references

Nicholas W. Wood

Nicholas W Wood

7

0 references

Sergey Nejentsev

13

Sergey Nejentsev

1 reference

13 August 2017

12

Rainer Doffinger

1 reference

13 August 2017

Dinakantha Kumararatne

11

Dinakantha Kumararatne

1 reference

13 August 2017

5

Emma Stebbings

1 reference

13 August 2017

James Curtis

2

1 reference

13 August 2017

Michael Epstein

3

1 reference

13 August 2017

Sofia Grigoriadou

6

1 reference

13 August 2017

Sophie Hambleton

8

1 reference

13 August 2017

language of work or name

English

0 references

publication date

31 August 2012

1 reference

13 August 2017

1 reference

13 August 2017

28

1 reference

13 August 2017

21

1 reference

13 August 2017

2747-2754

1 reference

Creative Commons Attribution 3.0 Unported

13 August 2017

start time

2 October 2016

1 reference

April 2023 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Modeling read counts for CNV detection in exome sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476336

Copy number variation detection and genotyping from exome sequence data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476336

Detection of structural variants and indels within exome data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476336

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476336

SVDetect: a tool to identify genomic structural variations from paired-end and mate-pair sequencing data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476336

Exome sequencing identifies the cause of a mendelian disorder

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476336

Computational methods for discovering structural variation with next-generation sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476336

Origins and functional impact of copy number variation in the human genome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476336

Combined immunodeficiency associated with DOCK8 mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476336

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476336

CNV-seq, a new method to detect copy number variation using high-throughput sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476336

Mapping and quantifying mammalian transcriptomes by RNA-Seq

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476336

Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476336

Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476336

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTS526

10.1093/BIOINFORMATICS/BTS526

21 January 2018

Identifiers

DOI

1 reference

journals/bioinformatics/PlagnolCEMSGWHBTKDN12

13 August 2017

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

13 August 2017

PubMed publication ID

22942019

1 reference