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

Kenshi Hayashi | Zendy; Ryota Teramoto | Zendy; Akihiro Nomura | Zendy; Yoshihiro Asano | Zendy; Manu Beerens | Zendy; Yasutaka Kurata | Zendy; Isao Kobayashi | Zendy; Noboru Fujino | Zendy; Hiroshi Furusho | Zendy; Kenji Sakata | Zendy; Kenji Onoue | Zendy; David Y. Chiang | Zendy; Tuomas Kiviniemi | Zendy; Eva Buys | Zendy; Patrick Sips | Zendy; Micah L. Burch | Zendy; Yanbin Zhao | Zendy; Amy E. Kelly | Zendy; Masanobu Namura | Zendy; Yoshihito Kita | Zendy; Taketsugu Tsuchiya | Zendy; Bunji Kaku | Zendy; Kotaro Oe | Zendy; Yuko Takeda | Zendy; Tetsuo Konno | Zendy; Masaru Inoue | Zendy; Takashi Fujita | Zendy; Takeshi Kato | Zendy; Akira Funada | Zendy; Hayato Tada | Zendy; Akihiko Hodatsu | Zendy; Chiaki Nakanishi | Zendy; Yuichiro Sakamoto | Zendy; Toyonobu Tsuda | Zendy; Yoji Nagata | Zendy; Yoshihiro Tanaka | Zendy; Hirofumi Okada | Zendy; Keisuke Usuda | Zendy; Shi-He Cui | Zendy; Yoshihiko Saito | Zendy; Calum A. MacRae | Zendy; Seiji Takashima | Zendy; Masakazu Yamagishi | Zendy; Masaaki Kawashiri | Zendy; Masayuki Takamura | Zendy

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

Author(s) -

Kenshi Hayashi,

Ryota Teramoto,

Akihiro Nomura,

Yoshihiro Asano,

Manu Beerens,

Yasutaka Kurata,

Isao Kobayashi,

Noboru Fujino,

Hiroshi Furusho,

Kenji Sakata,

Kenji Onoue,

David Y. Chiang,

Tuomas Kiviniemi,

Eva Buys,

Patrick Sips,

Micah L. Burch,

Yanbin Zhao,

Amy E. Kelly,

Masanobu Namura,

Yoshihito Kita,

Taketsugu Tsuchiya,

Bunji Kaku,

Kotaro Oe,

Yuko Takeda,

Tetsuo Konno,

Masaru Inoue,

Takashi Fujita,

Takeshi Kato,

Akira Funada,

Hayato Tada,

Akihiko Hodatsu,

Chiaki Nakanishi,

Yuichiro Sakamoto,

Toyonobu Tsuda,

Yoji Nagata,

Yoshihiro Tanaka,

Hirofumi Okada,

Keisuke Usuda,

Shi-He Cui,

Yoshihiko Saito,

Calum A. MacRae,

Seiji Takashima,

Masakazu Yamagishi,

Masaaki Kawashiri,

Masayuki Takamura

Publication year - 2020

Publication title -

cardiovascular research

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.774

H-Index - 219

eISSN - 1755-3245

pISSN - 0008-6363

DOI - 10.1093/cvr/cvaa010

Subject(s) - lmna , proband , exome sequencing , zebrafish , genetics , exome , biology , medical genetics , population , bioinformatics , phenotype , medicine , gene , mutation , environmental health

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 CCSD patients by using WES and 2015 American College of Medical Genetics and Genomics (ACMG) standards and guidelines as well as evaluating the usefulness of functional studies for determining them.

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