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

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

Abstract 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...

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Bibliographic Details
Main Authors: Qing Li, Yan Mao, Shaoying Li, Hongzi Du, Wenzhi He, Jianchun He, Lingyin Kong, Jun Zhang, Bo Liang, Jianqiao Liu
Format: Article
Language:English
Published: BMC 2020-08-01
Series:BMC Medical Genomics
Subjects:
Preimplantation Genetic Testing for monogenic disease
Linked-read sequencing
Linkage analyses
Haplotype
Online Access:http://link.springer.com/article/10.1186/s12920-020-00766-1

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http://link.springer.com/article/10.1186/s12920-020-00766-1

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