Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss.

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作者： Chen,Zhao ^[1] ; Hongyan,Chai ^[1] ; Qinghua,Zhou ^[2] ; Jiadi,Wen ^[1] ; Uma M,Reddy ^[3] ; Rama,Kastury ^[1] ; Yonghui,Jiang ^[1] ; Winifred,Mak ^[4] ; Allen E,Bale ^[5] ; Hui,Zhang ^[6] ; Peining,Li ^[7]

作者单位： Departments of Genetics, Yale School of Medicine, New Haven, CT, USA. ^[1] Biomedical Translational Research Institute, Jinan University, Guangzhou, China. ^[2] Obstetrics and Gynecology, Yale School of Medicine, New Haven, CT, USA. ^[3] Departments of Genetics, Yale School of Medicine, New Haven, CT, USA. winifred.mak@austin.utexas.edu. ^[4] Department of Women's Health, Dell Medical School, The University of Texas at Austin, Austin, TX, USA. winifred.mak@austin.utexas.edu. ^[5] Departments of Genetics, Yale School of Medicine, New Haven, CT, USA. allen.bale@yale.edu. ^[6] Departments of Genetics, Yale School of Medicine, New Haven, CT, USA. zhang.hui@yale.edu. ^[7] Departments of Genetics, Yale School of Medicine, New Haven, CT, USA. peining.li@yale.edu. ^[8]

关键词 abnormality detection rate (ADR)exome sequencing (ES)genetic etiology pregnancy loss products of conception (POC)

主题词流产, 自然(Abortion, Spontaneous);队列研究(Cohort Studies);DNA拷贝数变异(DNA Copy Number Variations);女(雌)性(Female);人类(Humans);妊娠(Pregnancy)

DOI 10.1038/s41436-020-01008-6

PMID 33100332

发布时间 2022-12-07

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