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

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BACKGROUND: 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 secondar...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10104233/
https://www.ncbi.nlm.nih.gov/pubmed/37066275
http://dx.doi.org/10.1101/2023.04.03.23287612

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10104233/
https://www.ncbi.nlm.nih.gov/pubmed/37066275
http://dx.doi.org/10.1101/2023.04.03.23287612

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