医学
基因检测
孟德尔遗传
口译(哲学)
立场声明
遗传诊断
鉴定(生物学)
普通合伙企业
遗传变异
生命银行
基因组学
立场文件
生物信息学
遗传学
作者
Eloisa Arbustini,Elijah R. Behr,Lucie Carrier,Cornelia M. van Duijn,Paul Evans,Valentina Favalli,P. van der Harst,Kristina H. Haugaa,Guillaume Jondeau,Stefan Kääb,Juan Pablo Kaski,Maryam Kavousi,Bart Loeys,Antonis Pantazis,Yigal Pinto,Heribert Schunkert,Alessandro Di Toro,Thomas Thum,Mario Urtis,Johannes Waltenberger,Perry M. Elliott
标识
DOI:10.1093/eurheartj/ehab895
摘要
This document describes the contribution of clinical criteria to the interpretation of genetic variants using heritable Mendelian cardiomyopathies as an example. The aim is to assist cardiologists in defining the clinical contribution to a genetic diagnosis and the interpretation of molecular genetic reports. The identification of a genetic variant of unknown or uncertain significance is a limitation of genetic testing, but current guidelines for the interpretation of genetic variants include essential contributions from clinical family screening that can establish a de novo assignment of the variant or its segregation with the phenotype in the family. A partnership between clinicians and patients helps to solve major uncertainties and provides reliable and clinically actionable information.
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