Variant detection sensitivity and biases in whole genome and exome sequencing (Q35209205)

7 August 2017

title

Variant detection sensitivity and biases in whole genome and exome sequencing (English)

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7 August 2017

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whole genome sequencing

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7 August 2017

David R FitzPatrick

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Alison M Meynert

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7 August 2017

Morad Ansari

series ordinal

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7 August 2017

language of work or name

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19 July 2014

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7 August 2017

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7 August 2017

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7 August 2017

page(s)

247

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Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

7 August 2017

cites work

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13 July 2018

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

13 July 2018

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Quantifying single nucleotide variant detection sensitivity in exome sequencing

13 July 2018

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13 July 2018

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A mechanistic basis for amplification differences between samples and between genome regions

13 July 2018

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Fast computation and applications of genome mappability

13 July 2018

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The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process

13 July 2018

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

13 July 2018

1 reference

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Performance comparison of exome DNA sequencing technologies

13 July 2018

1 reference

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Accurate and comprehensive sequencing of personal genomes

13 July 2018

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

13 July 2018

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Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries

13 July 2018

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A map of human genome variation from population-scale sequencing

13 July 2018

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Integrating common and rare genetic variation in diverse human populations

13 July 2018

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

13 July 2018

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Fast and accurate short read alignment with Burrows-Wheeler transform

13 July 2018

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Amplification-free Illumina sequencing-library preparation facilitates improved mapping and assembly of (G+C)-biased genomes

13 July 2018

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A large genome center's improvements to the Illumina sequencing system

13 July 2018

1 reference

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Accurate whole human genome sequencing using reversible terminator chemistry

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122774

The human genome browser at UCSC

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4122774

Human Gene Mutation Database (HGMD): 2003 update

13 July 2018

1 reference

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26 September 2018

Identifiers

DOI

10.1186/1471-2105-15-247

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journals/bmcbi/MeynertAFT14

7 August 2017

DBLP publication ID

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DBLP Dataset 2021-01-02

Dimensions Publication ID

28 January 2021

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7 August 2017

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