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Identifying Human Genome-Wide CNV, LOH and UPD by Targeted Sequencing of Selected Regions

Identifying Human Genome-Wide CNV, LOH and UPD by Targeted Sequencing of Selected Regions

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1676336431

Identifying Human Genome-Wide CNV, LOH and UPD by Targeted Sequencing of Selected Regions

About this item

Full title

Identifying Human Genome-Wide CNV, LOH and UPD by Targeted Sequencing of Selected Regions

Publisher

United States: Public Library of Science

Journal title

PloS one, 2015-04, Vol.10 (4), p.e0123081-e0123081

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

Copy-number variations (CNV), loss of heterozygosity (LOH), and uniparental disomy (UPD) are large genomic aberrations leading to many common inherited diseases, cancers, and other complex diseases. An integrated tool to identify these aberrations is essential in understanding diseases and in designing clinical interventions. Previous discovery met...

Alternative Titles

Full title

Identifying Human Genome-Wide CNV, LOH and UPD by Targeted Sequencing of Selected Regions

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_1676336431

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1676336431

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0123081

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