Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy
: 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
: 2015
: European Heart Journal
: EUROPEAN HEART JOURNAL
: EUR HEART J
: 36
: 34
: 2327
: 2337
: 11
: 0195-668X
DOI: https://doi.org/10.1093/eurheartj/ehv253
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.