Identification and interruption of inheritance of familial cryptic translocations: A case report

ConclusionWhole-genome, low-coverage mate-pair sequencing combined with preimplantation genetic haplotyping methods powerfully and practically identify cryptic translocations and block familial transmissions.

Source: Molecular Genetics & Genomic Medicine - January 18, 2024 Category: Genetics & Stem Cells Authors: Jian Ou, Jian Sun, Chuan ‐Chun Yang, Meng‐Xia Ni, Qin‐Yan Zou, Shi‐Yu Xing, Chun‐Hua Lin, Qing‐Xia Meng, Jie Ding, Ai‐Yan Zheng, Yan Zhang, Ling‐Yin Kong, Bo Liang, Hong Li Tags: CLINICAL REPORT Source Type: research