Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients

Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients

Abstract Background Uniparental disomy (UPD) is the inheritance of two homologous chromosomes from the same parent. UPD may result in clinical phenotypes when occurring on chromosomes with specific imprinting pattern, when leading to homozygosity of a deleterious recessive allele inherited from one...

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Bibliographic Details
Main Authors: Lei Wang, Pengfei Liu, Weimin Bi, Teresa Sim, Xia Wang, Magdalene Walkiewicz, Magalie Sophie Leduc, Linyan Meng, Fan Xia, Christine M. Eng, Yaping Yang, Bo Yuan, Hongzheng Dai
Format: Article
Language:English
Published: Wiley 2021-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
algorithm
SNP array
trio exome sequencing
uniparental disomy
Online Access:https://doi.org/10.1002/mgg3.1792

Internet

https://doi.org/10.1002/mgg3.1792

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