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

doi:10.1093/cvr/cvaa010

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Article

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

Cardiovascular research - 1 Nov 2020

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 Keisuke, Cui Shihe, Saito Yoshihiko, MacRae Calum A, Takashima Seiji, Yamagishi Masakazu, Kawashiri Masa-Aki, Takamura Masayuki

Abstract excerpt

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 CCSD patients by using WES and 2015 American College of Medical Genetics and Genomics (ACMG) standards and...

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PMID: 31977013
DOI: 10.1093/cvr/cvaa010
PMCID: PMC8453299

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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