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Article

Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2021

Wolujewicz Paul, Aguiar-Pulido Vanessa, AbdelAleem Alice, Nair Vidya, Thareja Gaurav, Suhre Karsten, Shaw Gary M, Finnell Richard H, Elemento Olivier, Ross M Elizabeth

Abstract excerpt

PURPOSE: Next-generation sequencing has implicated some risk variants for human spina bifida (SB), but the genome-wide contribution of structural variation to this complex genetic disorder remains largely unknown. We examined copy-number variant (CNV) participation in the genetic architecture underlying SB risk. METHODS: A high-confidence ensemble approach to genome sequences (GS) was benchmarked and employed for...

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Identifiers

PMID: 33686259
DOI: 10.1038/s41436-021-01126-9
PMCID: PMC8257499

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