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Rare variant phasing and haplotypic expression from RNA sequencing with phASER

Rare variant phasing and haplotypic expression from RNA sequencing with phASER

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5799626931844ad1a8ca2789b37bae49

Rare variant phasing and haplotypic expression from RNA sequencing with phASER

About this item

Full title

Rare variant phasing and haplotypic expression from RNA sequencing with phASER

Publisher

London: Nature Publishing Group UK

Journal title

Nature communications, 2016-09, Vol.7 (1), p.12817-6, Article 12817

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

Haplotype phasing of genetic variants is important for clinical interpretation of the genome, population genetic analysis and functional genomic analysis of allelic activity. Here we present phASER, an accurate approach for phasing variants that are overlapped by sequencing reads, including those from RNA sequencing (RNA-seq), which often span mult...

Alternative Titles

Full title

Rare variant phasing and haplotypic expression from RNA sequencing with phASER

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_5799626931844ad1a8ca2789b37bae49

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5799626931844ad1a8ca2789b37bae49

Other Identifiers

ISSN

2041-1723

E-ISSN

2041-1723

DOI

10.1038/ncomms12817

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