A1 Refereed original research article in a scientific journal

Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy



Authors: Akinrinade O, Ollila L, Vattulainen S, Tallila J, Gentile M, Salmenpera P, Koillinen H, Kaartinen M, Nieminen MS, Myllykangas S, Alastalo TP, Koskenvuo JW, Helio T

Publisher: OXFORD UNIV PRESS

Publication year: 2015

Journal: European Heart Journal

Journal name in source: EUROPEAN HEART JOURNAL

Journal acronym: EUR HEART J

Volume: 36

Issue: 34

First page : 2327

Last page: 2337

Number of pages: 11

ISSN: 0195-668X

DOI: https://doi.org/10.1093/eurheartj/ehv253


Abstract

Conclusion Panel-based, high-quality NGS enables high diagnostic yield especially in the familial form of DCM, and bioinformatic variant filtering is a reliable step in the process of interpretation of genomic data in a clinical setting.




Last updated on 2024-26-11 at 22:22