Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
Work
Year: 2023
Type: preprint
Abstract: 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 accura... more
Authors Katherine Josephs, Angharad M. Roberts, Pantazis Theotokis, Roddy Walsh, Philip J. Ostrowski +30 more
Institutions Harefield Hospital, Guy's and St Thomas' NHS Foundation Trust, Imperial College London, Great Ormond Street Hospital for Children NHS Foundation Trust, Amsterdam University Medical Centers +40 more
Cites: 49
Cited by: 3
Related to: 10
Citation percentile (by year/subfield): 96.41
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Sustainable Development Goal Good health and well-being
Open Access status: green