Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the
genetic screen
genomics
pathogenic
rare disease
uniparental
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2022
2022
Historique:
received:
16
05
2022
accepted:
23
08
2022
entrez:
3
10
2022
pubmed:
4
10
2022
medline:
4
10
2022
Statut:
epublish
Résumé
A uniparental disomy (UPD) screen using whole genome sequencing (WGS) data from 164 trios with rare disorders in the Irish population was performed to identify large runs of homozygosity of uniparental origin that may harbour deleterious recessive variants. Three instances of whole chromosome uniparental isodisomy (UPiD) were identified: one case of maternal isodisomy of chromosome 1 and two cases of paternal isodisomy of chromosome 2. We identified deleterious homozygous variants on isodisomic chromosomes in two probands: a novel p (Glu59ValfsTer20) variant in
Identifiants
pubmed: 36186440
doi: 10.3389/fgene.2022.945296
pii: 945296
pmc: PMC9515794
doi:
Types de publication
Journal Article
Langues
eng
Pagination
945296Informations de copyright
Copyright © 2022 Molloy, Jones, Linhares, Buckley, Leahy, Lynch, Knerr, King and Gorman.
Déclaration de conflit d'intérêts
Authors BM, EJ, NL, and PB were employed by the company Genuity Science. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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