Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations.

ABSTRACT:

Purpose

Copy-number variants (CNVs) and other non-single nucleotide variant/indel variant types contribute an important proportion of diagnoses in individuals with suspected genetic disease. This study describes the range of such variants detected by genome sequencing (GS).

Methods

For a pediatric cohort of 1032 participants undergoing clinical GS, we characterize the CNVs and other non-single nucleotide variant/indel variant types that were reported, including aneuploidies, mobile element insertions, and uniparental disomies, and we describe the bioinformatic pipeline used to detect these variants.

Results

Together, these genetic alterations accounted for 15.8% of reported variants. Notably, 67.9% of these were deletions, 32.9% of which overlapped a single gene, and

SUBMITTER: James KN 

PROVIDER: S-EPMC11542619 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature