Biobank-scale genotyping of Robertsonian translocations reveals hidden structural variation on the human acrocentric chromosomes
生物样本库规模的罗伯逊易位基因分型揭示了人类端着丝粒染色体上隐藏的结构变异
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doi:10.64898/2026.03.08.710242
Rhie, Arang; Kim, Juhyun; Rodriguez-Algarra, Francisco; Solar, Steven J; Koren, Sergey; Antipov, Dmitry; Wilczewski, Caralynn M; Maxwell, George L; Gerton, Jennifer; Paschall, Justin; Potapova, Tamara; Wolfsberg, Tyra G; Singh, Sumeeta; Del Castillo Del Rio, Sandra O; Turner, Clesson; Rakyan, Vardhman K; Phillippy, Adam M