Article
Tumor mutational burden analysis of 2,000 Japanese cancer genomes using whole exome and targeted gene panel sequencing.
Biomedical research (Tokyo, Japan) - 1 Jan 2018
Hatakeyama Keiichi, Nagashima Takeshi, Urakami Kenichi, Ohshima Keiichi, Serizawa Masakuni, Ohnami Sumiko, Shimoda Yuji, Ohnami Shumpei, Maruyama Koji, Naruoka Akane, Akiyama Yasuto, Kusuhara Masatoshi, Mochizuki Tohru, Yamaguchi Ken
Abstract excerpt
Tumor mutational burden (TMB) is an emerging characteristic in cancer and has been associated with microsatellite instability, defective DNA replication/repair, and response to PD-1 and PD-L1 blockade immunotherapy. When estimating TMB, targeted panel sequencing is performed using a few hundred genes; however, a comparison of TMB results obtained with this platform and with whole exome sequencing (WES) has not...
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