A whole-genome sequencing–based novel preimplantation genetic testing method for de novo mutations combined with chromosomal balanced translocations

PURPOSE: To explore a new preimplantation genetic testing (PGT) method for de novo mutations (DNMs) combined with chromosomal balanced translocations by whole-genome sequencing (WGS) using the MGISEQ-2000 sequencer. METHODS: Two families, one with maternal Olmsted syndrome caused by DNM (c.1246C>...

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Detalhes bibliográficos
Publicado no:J Assist Reprod Genet
Main Authors: Yuan, Ping, Xia, Jun, Ou, Songbang, Liu, Ping, Du, Tao, Zheng, Lingyan, Yin, Xuyang, Xie, Lin, Zhang, Sijia, Yan, Huijuan, Gao, Ya, Zhang, Qingxue, Jiang, Hui, Chen, Fang, Wang, Wenjun
Formato: Artigo
Idioma:Inglês
Publicado em: Springer US 2020
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7550397/
https://ncbi.nlm.nih.gov/pubmed/32783137
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10815-020-01921-4
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