Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders

作者：David Porubskỳ, Wolfram Höps, Hufsah Ashraf, PingHsun Hsieh, Bernardo Rodríguez–Martín, Feyza Yilmaz, Jana Ebler, Pille Hallast, Flavia Angela Maria Maggiolini, William T. Harvey, Barbara Henning, Peter A. Audano, David Gordon, Peter Ebert, Patrick Hasenfeld, Eva Benito, Qihui Zhu, Charles Lee, Francesca Antonacci, Matthias Steinrücken, Christine R. Beck, Ashley D. Sanders, Tobias Marschall, Evan E. Eichler, Jan O. Korbel · 发表于：Cell · 年份：2022 · DOI：10.1016/j.cell.2022.04.017 · 被引用次数：194 · 研究领域：Genomic variations and chromosomal abnormalities、Chromosomal and Genetic Variations、Prenatal Screening and Diagnostics