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Confirmation and pathogenicity of small copy number variations incidentally detected via a targeted next-generation sequencing–based preimplantation genetic testing for aneuploidy platform
Fertility and Sterility ( IF 6.6 ) Pub Date : 2024-07-10 , DOI: 10.1016/j.fertnstert.2024.07.008
Amanda Iturriaga 1 , Emily Mounts 1 , Ludovica Picchetta 2 , Cara Vega 1 , Francesca Mulas 2 , Christian Simon Ottolini 3 , Christine Whitehead 4 , Xin Tao 1 , Yiping Zhan 1 , Nicole Loia 1 , Vaidehi Jobanputra 5 , Antonio Capalbo 6 , Chaim Jalas 1
Affiliation  

To evaluate the technical accuracy, inheritance, and pathogenicity of small copy number variants (CNVs) detected by a targeted next-generation sequencing–based preimplantation genetic testing for aneuploidy (PGT-A) platform.

中文翻译:


通过基于靶向下一代测序的非整倍体植入前基因检测平台偶然检测到的小拷贝数变异的确认和致病性



评估通过基于靶向下一代测序的非整倍体植入前基因检测 (PGT-A) 平台检测到的小拷贝数变异 (CNV) 的技术准确性、遗传性和致病性。
更新日期:2024-07-10
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