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Population-based rare variant detection via pooled exome or custom hybridization capture with or wit...

Population-based rare variant detection via pooled exome or custom hybridization capture with or wit...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9a59b3c6ac9c4d3abe7f60df3f84046e

Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing

About this item

Full title

Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing

Publisher

England: BioMed Central Ltd

Journal title

BMC genomics, 2012-12, Vol.13 (1), p.683-683, Article 683

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Rare genetic variation in the human population is a major source of pathophysiological variability and has been implicated in a host of complex phenotypes and diseases. Finding disease-related genes harboring disparate functional rare variants requires sequencing of many individuals across many genomic regions and comparing against unaffected cohor...

Alternative Titles

Full title

Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_9a59b3c6ac9c4d3abe7f60df3f84046e

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9a59b3c6ac9c4d3abe7f60df3f84046e

Other Identifiers

ISSN

1471-2164

E-ISSN

1471-2164

DOI

10.1186/1471-2164-13-683

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