致病性
拷贝数变化
DNA测序
生物
计算生物学
遗传学
基因组
DNA
基因
微生物学
作者
Amanda Iturriaga,Emily L. Mounts,Ludovica Picchetta,Cara Vega,Francesca Mulas,Christian S. Ottolini,Christine V. Whitehead,Xin Tao,Yiping Zhan,Nicole D. Loia,Vaidhei Jobanputra,Antonio Capalbo,Chaim Jalas
标识
DOI:10.1016/j.fertnstert.2024.07.008
摘要
To evaluate the technical accuracy, inheritance, and pathogenicity of small copy number variants (CNVs) detected by a targeted next-generation sequencing (NGS)-based PGT-A platform.
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