Quantifying single nucleotide variant detection sensitivity in exome sequencing (Q34774807)

From Wikidata

Jump to navigation Jump to search

scientific article

edit

Language	Label	Description	Also known as
English	Quantifying single nucleotide variant detection sensitivity in exome sequencing	scientific article

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

23773188

retrieved

4 August 2017

title

Quantifying single nucleotide variant detection sensitivity in exome sequencing (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

23773188

retrieved

4 August 2017

author

Martin S. Taylor

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

23773188

retrieved

4 August 2017

Andrew Jackson

object named as

Andrew P Jackson

series ordinal

4

0 references

Louise Bicknell

series ordinal

2

object named as

Louise S Bicknell

1 reference

stated in

Europe PubMed Central

PubMed publication ID

23773188

retrieved

4 August 2017

author name string

Alison M Meynert

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

23773188

retrieved

4 August 2017

Matthew E Hurles

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

23773188

retrieved

4 August 2017

publication date

18 June 2013

1 reference

stated in

Europe PubMed Central

PubMed publication ID

23773188

retrieved

4 August 2017

published in

BMC Bioinformatics

1 reference

stated in

Europe PubMed Central

PubMed publication ID

23773188

retrieved

4 August 2017

volume

14

1 reference

stated in

Europe PubMed Central

PubMed publication ID

23773188

retrieved

4 August 2017

page(s)

195

1 reference

stated in

Europe PubMed Central

PubMed publication ID

23773188

retrieved

4 August 2017

copyright license

Creative Commons Attribution 2.0 Generic

start time

18 June 2013

1 reference

stated in

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

stated in

April 2022 Public Data File from Crossref

cites work

The accessible chromatin landscape of the human genome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

Tracking and coordinating an international curation effort for the CCDS Project

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

A comparative analysis of exome capture

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

Comprehensive comparison of three commercial human whole-exome capture platforms

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

Comparison of solution-based exome capture methods for next generation sequencing

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

Performance comparison of exome DNA sequencing technologies

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

Accurate and comprehensive sequencing of personal genomes

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

The quest for genetic risk factors for Crohn's disease in the post-GWAS era

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

The GENCODE exome: sequencing the complete human exome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

Experimental Approaches for Identifying Schizophrenia Risk Genes

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

Exome localization of complex disease association signals.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

The sequence read archive

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

Integrating common and rare genetic variation in diverse human populations

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

Whole exome capture in solution with 3 Gbp of data

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

Exome sequencing identifies the cause of a mendelian disorder

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

Targeted capture and massively parallel sequencing of 12 human exomes

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

The Sequence Alignment/Map format and SAMtools

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

The NCBI dbGaP database of genotypes and phenotypes

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

Detecting natural selection on cis-regulatory DNA.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

7 July 2018

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3695811

retrieved

9 December 2018

Identifiers

DOI

10.1186/1471-2105-14-195

1 reference

stated in

Europe PubMed Central

PubMed publication ID

23773188

retrieved

4 August 2017

DBLP publication ID

journals/bmcbi/MeynertBHJT13

1 reference

stated in

DBLP Dataset 2021-01-02

retrieved

28 January 2021

Dimensions Publication ID

1033209931

0 references

PMC publication ID

3695811

1 reference

stated in

Europe PubMed Central

PubMed publication ID

23773188

retrieved

4 August 2017

PubMed publication ID

23773188

1 reference

stated in

Europe PubMed Central

PubMed publication ID

23773188

retrieved

4 August 2017

ResearchGate publication ID

239733013

0 references

 

Sitelinks

Wikipedia(0 entries)

edit

Wikibooks(0 entries)

edit

Wikinews(0 entries)

edit

Wikiquote(0 entries)

edit

Wikisource(0 entries)

edit

Wikiversity(0 entries)

edit

Wikivoyage(0 entries)

edit

Wiktionary(0 entries)

edit

Multilingual sites(0 entries)

edit

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34774807&oldid=2197027912"