Article
Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance.
Diabetes research and clinical practice - 1 Nov 2020
Hosoe Jun, Miya Fuyuki, Kadowaki Hiroko, Fujiwara Toyofumi, Suzuki Ken, Kato Takashi, Waki Hironori, Sasako Takayoshi, Aizu Katsuya, Yamamura Natsumi, Sasaki Fusako, Kurano Makoto, Hara Kazuo, Tanaka Masaki, Ishiura Hiroyuki, Tsuji Shoji, Honda Kenjiro, Yoshimura Jun, Morishita Shinichi, Matsuzawa Fumiko, Aikawa Sei-Ichi, Boroevich Keith A, Nangaku Masaomi, Okada Yukinori, Tsunoda Tatsuhiko, Shojima Nobuhiro, Yamauchi Toshimasa, Kadowaki Takashi
Abstract excerpt
AIMS: Monogenic diabetes is clinically heterogeneous and differs from common forms of diabetes (type 1 and 2). We aimed to investigate the clinical usefulness of a comprehensive genetic testing system, comprised of targeted next-generation sequencing (NGS) with phenotype-driven bioinformatics analysis in patients with monogenic diabetes, which uses patient genotypic and phenotypic data to prioritize potentially...
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