Article
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Nature genetics - 1 Apr 2024
Fehlings Darcy L, Zarrei Mehdi, Engchuan Worrawat, Sondheimer Neal, Thiruvahindrapuram Bhooma, MacDonald Jeffrey R, Higginbotham Edward J, Thapa Ritesh, Behlim Tarannum, Aimola Sabrina, Switzer Lauren, Ng Pamela, Wei John, Danthi Prakroothi S, Pellecchia Giovanna, Lamoureux Sylvia, Ho Karen, Pereira Sergio L, de Rijke Jill, Sung Wilson W L, Mowjoodi Alireza, Howe Jennifer L, Nalpathamkalam Thomas, Manshaei Roozbeh, Ghaffari Siavash, Whitney Joseph, Patel Rohan V, Hamdan Omar, Shaath Rulan, Trost Brett, Knights Shannon, Samdup Dawa, McCormick Anna, Hunt Carolyn, Kirton Adam, Kawamura Anne, Mesterman Ronit, Gorter Jan Willem, Dlamini Nomazulu, Merico Daniele, Hilali Murto, Hirschfeld Kyle, Grover Kritika, Bautista Nelson X, Han Kara, Marshall Christian R, Yuen Ryan K C, Subbarao Padmaja, Azad Meghan B, Turvey Stuart E, Mandhane Piush, Moraes Theo J, Simons Elinor, Maxwell George, Shevell Michael, Costain Gregory, Michaud Jacques L, Hamdan Fadi F, Gauthier Julie, Uguen Kevin, Stavropoulos Dimitri J, Wintle Richard F, Oskoui Maryam, Scherer Stephen W
Abstract excerpt
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...
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