Accurate detection of clinically relevant uniparental disomy from exome sequencing data

PURPOSE: Uniparental disomy (UPD) is the rare occurrence of two homologous chromosomes originating from the same parent and is typically identified by marker analysis or single-nucleotide polymorphism (SNP)-based microarrays. UPDs may lead to disease due to imprinting effects, underlying homozygous...

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Bibliographic Details
Published in:Genet Med
Main Authors: Yauy, Kevin, de Leeuw, Nicole, Yntema, Helger G., Pfundt, Rolph, Gilissen, Christian
Format: Artigo
Language:Inglês
Published: Nature Publishing Group US 2019
Subjects:
Brief Communication
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7118024/
https://ncbi.nlm.nih.gov/pubmed/31767986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0704-x
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