A robust benchmark for detection of germline large deletions and insertions
Abstract
New technologies and analysis methods are enabling genomic structural variants (SVs) to be detected with ever-increasing accuracy, resolution and comprehensiveness. To help translate these methods to routine research and clinical practice, we developed a sequence-resolved benchmark set for identification of both false-negative and false-positive germline large insertions and deletions. To create this benchmark for a broadly consented son in a...
Paper Details
Title
A robust benchmark for detection of germline large deletions and insertions
Published Date
Jun 15, 2020
Journal
Volume
38
Issue
11
Pages
1347 - 1355
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