Journal article
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
Abstract
We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP) and their biological parents. We classified 37 of 327 (11.3%) children as having pathogenic/likely pathogenic (P/LP) variants and 58 of 327 (17.7%) as having variants of uncertain significance. Multiple classes of P/LP variants included single-nucleotide variants (SNVs)/indels (6.7%), copy number variations (3.4%) and mitochondrial mutations (1.5%). The COL4A1 …
Authors
Fehlings DL; Zarrei M; Engchuan W; Sondheimer N; Thiruvahindrapuram B; MacDonald JR; Higginbotham EJ; Thapa R; Behlim T; Aimola S
Journal
Nature Genetics, Vol. 56, No. 4, pp. 585–594
Publisher
Springer Nature
Publication Date
April 2024
DOI
10.1038/s41588-024-01686-x
ISSN
1061-4036