HiFi long-read genomes for difficult-to-detect, clinically relevant variants
用于检测难以检测的临床相关变异的高保真长读基因组测序
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2024.12.013
Höps, Wolfram; Weiss, Marjan M; Derks, Ronny; Galbany, Jordi Corominas; Ouden, Amber den; van den Heuvel, Simone; Timmermans, Raoul; Smits, Jos; Mokveld, Tom; Dolzhenko, Egor; Chen, Xiao; van den Wijngaard, Arthur; Eberle, Michael A; Yntema, Helger G; Hoischen, Alexander; Gilissen, Christian; Vissers, Lisenka E L M