Article

Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

2023-04-03

Abstract excerpt

<h4>Background</h4> As availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in inherited cardiac condition (ICC) genes, including as secondary findings. <h4>Methods</h4> We analyse evidence for inheritance patterns, allelic requirement, disease mecha...

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Literature Corpus work: 2f61380e-26e6-5b5c-b874-831d08fa1c48
DOI: 10.1101/2023.04.03.23287612

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