Concordance between genome-wide cfDNA screening and diagnostic test results for large copy-number variants: a multi-site study from the Global Expanded NIPT Consortium
全基因组cfDNA筛查与大拷贝数变异诊断测试结果的一致性:来自全球扩展NIPT联盟的多中心研究
期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2026.1744417
Soster, Erica; Dalton, Kristin; Bonifacio, Michael; Ellis, Katie Battese; Hardy, Tristan; Heddar, Abdelkader; Jurkowska, Monika; Kleinfinger, Pascale; Kulisic, Marizela; Loggenberg, Kelly; Menezes, Melody; Mori, Allesio; Savarese, Giovanni; Westover, Thomas; Bhatt, Sucheta