High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases.

ABSTRACT:

Background

Genetic disorders often manifest as abnormal fetal or childhood development. Copy number variations (CNVs) represent a significant genetic mechanism underlying such disorders. Despite their importance, the effectiveness of clinical exome sequencing (CES) in detecting CNVs, particularly small ones, remains incompletely understood. We aimed to evaluate the detection of both large and small CNVs using CES in a substantial clinical cohort, including parent-offspring trios and proband only analysis.

Methods

We conducted a retrospective analysis of CES data from 2428 families, collected from 2018 to 2021. Detected CNV were categorized as large or small, and various validation techniques including chromosome microarray (CMA), Multiplex ligation-dependent probe amplificat

SUBMITTER: Zeng Y 

PROVIDER: S-EPMC11234535 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature