Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

Abstract Background International guidelines for variant interpretation in Mendelian disease set stringent criteria to report a variant as (likely) pathogenic, prioritising control of false-positive rate over test sensitivity and diagnostic yield. Genetic testing is also more likely informative in i...

Descripció completa

Dades bibliogràfiques

Autors principals:	Roddy Walsh, Francesco Mazzarotto, Nicola Whiffin, Rachel Buchan, William Midwinter, Alicja Wilk, Nicholas Li, Leanne Felkin, Nathan Ingold, Risha Govind, Mian Ahmad, Erica Mazaika, Mona Allouba, Xiaolei Zhang, Antonio de Marvao, Sharlene M. Day, Euan Ashley, Steven D. Colan, Michelle Michels, Alexandre C. Pereira, Daniel Jacoby, Carolyn Y. Ho, Kate L. Thomson, Hugh Watkins, Paul J. R. Barton, Iacopo Olivotto, Stuart A. Cook, James S. Ware
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2019-01-01
Col·lecció:	Genome Medicine
Matèries:	Variant interpretation Mendelian genetics Hypertrophic cardiomyopathy ACMG/AMP guidelines
Accés en línia:	http://link.springer.com/article/10.1186/s13073-019-0616-z
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!