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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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2021-11-01
coleção:	Molecular Genetics & Genomic Medicine
Assuntos:	algorithm SNP array trio exome sequencing uniparental disomy
Acesso em linha:	https://doi.org/10.1002/mgg3.1792
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