GenomicsNucleic Acids ResearchPeer-reviewed
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing
Atsushi Hijikata, Mikita Suyama, Shingo Kikugawa…·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.
14 citations