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

28 Apr 2015

Abstract excerpt

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 methods based on whole-genome sequencing (WGS) require very high...

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PMID: 25919136
DOI: 10.1371/journal.pone.0123081

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