Detection of structural variants and indels within exome data (Q34104734)

31 July 2017

Detection of structural variants and indels within exome data (English)

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31 July 2017

2

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31 July 2017

Kenneth Mark

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Brian J O'Roak

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Brian J O'Roak

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Evan E. Eichler

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Evan E Eichler

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31 July 2017

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Emre Karakoc

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31 July 2017

Megan Y Dennis

4

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31 July 2017

Laura Vives

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31 July 2017

Mark J Rieder

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31 July 2017

Debbie A Nickerson

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31 July 2017

18 December 2011

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31 July 2017

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31 July 2017

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31 July 2017

176-178

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31 July 2017

2

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https://scigraph.springernature.com/pub.10.1038/nmeth.1810

31 July 2017

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cites work

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269549

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269549

A framework for variation discovery and genotyping using 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=3269549

Natural genetic variation caused by small insertions and deletions in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269549

Mapping copy number variation by population-scale genome sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269549

A human genome structural variation sequencing resource reveals insights into mutational mechanisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269549

Public data archives for genomic structural variation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269549

mrsFAST: a cache-oblivious algorithm for short-read mapping.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269549

Characterization of missing human genome sequences and copy-number polymorphic insertions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269549

Detection and characterization of novel sequence insertions using paired-end next-generation sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269549

Targeted capture and massively parallel sequencing of 12 human exomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269549

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269549

The Sequence Alignment/Map format and SAMtools

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269549

Short mucin 6 alleles are associated with H pylori infection

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269549

A haplotype map of the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269549

Repeat instability: mechanisms of dynamic mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269549

dbSNP: the NCBI database of genetic variation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3269549

Error Detecting and Error Correcting Codes

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNMETH.1810

21 January 2018

Identifiers

DOI

10.1038/NMETH.1810

1 reference

Dimensions Publication ID

31 July 2017

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1 reference

31 July 2017

1 reference