Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases

Aims The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge. We aimed to identify pathogenic or likely pathogenic variants in...

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Hauptverfasser:	Hayashi, Kenshi, Teramoto, Ryota, Nomura, Akihiro, Asano, Yoshihiro, Beerens, Manu, Kurata, Yasutaka, Kobayashi, Isao, Fujino, Noboru, Furusho, Hiroshi, Sakata, Kenji, Onoue, Kenji, Chiang, David Y, Kiviniemi, Tuomas O, Buys, Eva, Sips, Patrick, Burch, Micah L, Zhao, Yanbin, Kelly, Amy E, Namura, Masanobu, Kita, Yoshihito, Tsuchiya, Taketsugu, Kaku, Bunji, Oe, Kotaro, Takeda, Yuko, Konno, Tetsuo, Inoue, Masaru, Fujita, Takashi, Kato, Takeshi, Funada, Akira, Tada, Hayato, Hodatsu, Akihiko, Nakanishi, Chiaki, Sakamoto, Yuichiro, Tsuda, Toyonobu, Nagata, Yoji, Tanaka, Yoshihiro, Okada, Hirofumi, Usuda, Keiich, Cui, Shihe, Saito, Yoshihiko, MacRae, Calum A, Takashima, Seiji, Yamagishi, Masakazu, Kawashiri, Masa-aki, Takamura, Masayuki
Format:	Artikel
Sprache:	eng
Schlagworte:	2015 ACMG standards and guidelines ASSAY Biology and Life Sciences Cardiac conduction-system disease Cellular electrophysiological study CONSEQUENCES CRISPR/Cas9-mediated gene knock-out in zebrafish GENE HYPERTROPHIC CARDIOMYOPATHY LONG QT SYNDROME MUTATION Whole exome sequencing
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