Article
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Genome medicine - 23 Oct 2023
Josephs Katherine S, Roberts Angharad M, Theotokis Pantazis, Walsh Roddy, Ostrowski Philip J, Edwards Matthew, Fleming Andrew, Thaxton Courtney, Roberts Jason D, Care Melanie, Zareba Wojciech, Adler Arnon, Sturm Amy C, Tadros Rafik, Novelli Valeria, Owens Emma, Bronicki Lucas, Jarinova Olga, Callewaert Bert, Peters Stacey, Lumbers Tom, Jordan Elizabeth, Asatryan Babken, Krishnan Neesha, Hershberger Ray E, Chahal C Anwar A, Landstrom Andrew P, James Cynthia, McNally Elizabeth M, Judge Daniel P, van Tintelen Peter, Wilde Arthur, Gollob Michael, Ingles Jodie, Ware James S
Abstract excerpt
BACKGROUND: As the 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 secondary findings. METHODS: We analyse evidence for inheritance patterns, allelic requirement, disease mechanism and...
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