Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing.

ABSTRACT:

Background

As exome sequencing (ES) integrates into clinical practice, we should make every effort to utilize all information generated. Copy-number variation can lead to Mendelian disorders, but small copy-number variants (CNVs) often get overlooked or obscured by under-powered data collection. Many groups have developed methodology for detecting CNVs from ES, but existing methods often perform poorly for small CNVs and rely on large numbers of samples not always available to clinical laboratories. Furthermore, methods often rely on Bayesian approaches requiring user-defined priors in the setting of insufficient prior knowledge. This report first demonstrates the benefit of multiplexed exome capture (pooling samples prior to capture), then presents a novel detection algorithm, mcC

SUBMITTER: Filer DL 

PROVIDER: S-EPMC8293537 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature