Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes

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 unipar...

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Detalles Bibliográficos
Autores principales: Molloy, B., Jones, E. R., Linhares, N. D., Buckley, P. G., Leahy, T. R., Lynch, B., Knerr, I., King, M. D., Gorman, K. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9515794/
https://www.ncbi.nlm.nih.gov/pubmed/36186440
http://dx.doi.org/10.3389/fgene.2022.945296

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9515794/
https://www.ncbi.nlm.nih.gov/pubmed/36186440
http://dx.doi.org/10.3389/fgene.2022.945296

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