Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing
Atsushi Hijikata, Mikita Suyama, Shingo Kikugawa, Ryo Matoba, Takuya Naruto, Yumi Enomoto, Kenji Kurosawa, Naoki Harada, Kumiko Yanagi, Tadashi Kaname, Keisuke Miyako, Masaki Takazawa, Hideo Sasai, Junichi Hosokawa, Sakae Itoga, , Osamu Ohara
The paper benchmarks difficult-to-sequence regions in the human exome using machine learning and real-world NGS data from gnomAD to improve clinical sequencing accuracy.
Nucleic Acids Research · Nov 14, 2023Peer-reviewedGenomics