(Q35209205)

7 August 2017

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

1 reference

7 August 2017

1 reference

whole genome sequencing

1 reference

4

1 reference

7 August 2017

David R FitzPatrick

3

0 references

author name string

Alison M Meynert

series ordinal

1

1 reference

PubMed ID

25038816

7 August 2017

Morad Ansari

series ordinal

2

1 reference

PubMed ID

25038816

7 August 2017

language of work or name

1 reference

19 July 2014

1 reference

7 August 2017

1 reference

7 August 2017

15

1 reference

7 August 2017

247

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2105-15-247

7 August 2017

0 references

cites work

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

1 reference

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

Sequencing depth and coverage: key considerations in genomic analyses

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

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

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

Quantifying single nucleotide variant detection sensitivity in exome sequencing

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

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

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

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

Fast computation and applications of genome mappability

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

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

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

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

Performance comparison of exome DNA sequencing technologies

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

Accurate and comprehensive sequencing of personal genomes

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

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

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

Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries

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

A map of human genome variation from population-scale sequencing

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

Integrating common and rare genetic variation in diverse human populations

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

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

Fast and accurate short read alignment with Burrows-Wheeler transform

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

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

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

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

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

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

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

26 September 2018

Identifiers

DOI

10.1186/1471-2105-15-247

1 reference

journals/bmcbi/MeynertAFT14

7 August 2017

1 reference

DBLP Dataset 2021-01-02

Dimensions Publication ID

28 January 2021

0 references

1 reference

7 August 2017

1 reference

PubMed ID

25038816