VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer (Q34115271)

31 July 2017

VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer (English)

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31 July 2017

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4

Leslie G Biesecker

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31 July 2017

2

Eric D Green

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31 July 2017

3

James C Mullikin

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31 July 2017

Jamie K Teer

1

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PubMed ID

22210868

31 July 2017

language of work or name

English

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publication date

30 December 2011

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31 July 2017

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31 July 2017

28

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31 July 2017

4

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31 July 2017

599-600

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Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

31 July 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278764

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278764

A probabilistic disease-gene finder for personal genomes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278764

SVA: software for annotating and visualizing sequenced human genomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278764

Exome sequencing identifies GRIN2A as frequently mutated in melanoma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278764

Massively parallel sequencing and rare disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278764

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278764

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278764

Exome sequencing: the sweet spot before whole genomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278764

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278764

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278764

Visualizing genomes: techniques and challenges

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278764

Cancer genome sequencing: a review

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3278764

10.1093/BIOINFORMATICS/BTR711

5 July 2018

Identifiers

DOI

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journals/bioinformatics/TeerGMB12

31 July 2017

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DBLP Dataset 2021-01-02

28 January 2021

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31 July 2017

1 reference

PubMed ID

22210868