(Q35153418)

6 August 2017

title

An analytical framework for optimizing variant discovery from personal genomes (English)

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6 August 2017

7

David Mittelman

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6 August 2017

1

Gareth Highnam

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6 August 2017

Jason J Wang

2

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6 August 2017

Dean Kusler

3

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6 August 2017

Justin Zook

4

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6 August 2017

Vinaya Vijayan

5

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6 August 2017

Nir Leibovich

6

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6 August 2017

language of work or name

English

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publication date

25 February 2015

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6 August 2017

published in

Nature Communications

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6 August 2017

volume

6

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6 August 2017

page(s)

6275

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Creative Commons Attribution 4.0 International

6 August 2017

copyright license

start time

25 February 2015

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Variant detection sensitivity and biases in whole genome and exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351570

Toward better understanding of artifacts in variant calling from high-coverage samples

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351570

SMaSH: a benchmarking toolkit for human genome variant calling

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351570

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351570

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351570

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome 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=4351570

Disease-targeted sequencing: a cornerstone in the clinic

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351570

An integrated map of genetic variation from 1,092 human 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=4351570

Tools for mapping high-throughput 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=4351570

Performance comparison of benchtop high-throughput sequencing platforms

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351570

SEQanswers: an open access community for collaboratively decoding 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=4351570

Fast gapped-read alignment with Bowtie 2

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351570

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=4351570

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=4351570

The Sequence Alignment/Map format and SAMtools

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351570

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=4351570

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4351570

27 September 2018

Identifiers

DOI

10.1038/NCOMMS7275

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6 August 2017

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6 August 2017

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