Haplotyping by linked-read sequencing (HLRS) of the genetic disease carriers for preimplantation genetic testing without a proband or relatives

BACKGROUND: In order to mitigate the risk of allele dropout (ADO) and ensure the accuracy of preimplantation genetic testing for monogenic disease (PGT-M), it is necessary to construct parental haplotypes. Typically, haplotype resolution is obtained by genotyping multiple polymorphic markers in both...

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Publicat a:BMC Med Genomics
Autors principals: Li, Qing, Mao, Yan, Li, Shaoying, Du, Hongzi, He, Wenzhi, He, Jianchun, Kong, Lingyin, Zhang, Jun, Liang, Bo, Liu, Jianqiao
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Technical Advance
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7441613/
https://ncbi.nlm.nih.gov/pubmed/32819358
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-020-00766-1
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