Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
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ABSTRACT:
SUBMITTER: Hijikata A
PROVIDER: S-EPMC10783491 | biostudies-literature | 2024 Jan
REPOSITORIES: biostudies-literature
Publications
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
Hijikata Atsushi A Suyama Mikita M Kikugawa Shingo S Matoba Ryo R Naruto Takuya T Enomoto Yumi Y Kurosawa Kenji K Harada Naoki N Yanagi Kumiko K Kaname Tadashi T Miyako Keisuke K Takazawa Masaki M Sasai Hideo H Hosokawa Junichi J Itoga Sakae S Yamaguchi Tomomi T Kosho Tomoki T Matsubara Keiko K Kuroki Yoko Y Fukami Maki M Adachi Kaori K Nanba Eiji E Tsuchida Naomi N Uchiyama Yuri Y Matsumoto Naomichi N Nishimura Kunihiro K Ohara Osamu O
Nucleic acids research 20240101 1
Next-generation DNA sequencing (NGS) in short-read mode has recently been used for genetic testing in various clinical settings. NGS data accuracy is crucial in clinical settings, and several reports regarding quality control of NGS data, primarily focusing on establishing NGS sequence read accuracy, have been published thus far. Variant calling is another critical source of NGS errors that remains unexplored at the single-nucleotide level despite its established significance. In this study, we ...[more]
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