Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
Walsh, Roddy ; Mazzarotto, Francesco ; Whiffin, Nicola ; Buchan, Rachel ; Midwinter, William ; Wilk, Alicja ; Li, Nicholas ; Felkin, Leanne ; Ingold, Nathan ; Govind, Risha ; Ahmad, Mian ; Mazaika, Erica ; Allouba, Mona ; Zhang, Xiaolei ; de Marvao, Antonio ; Day, Sharlene M ; Ashley, Euan ; Colan, Steven D ; Michels, Michelle ; Pereira, Alexandre C ; Jacoby, Daniel ; Ho, Carolyn Y ; Thomson, Kate L ; Watkins, Hugh ; Barton, Paul J R ; Olivotto, Iacopo ; Cook, Stuart A ; Ware, James S
Genome medicine, 2019-01, Vol.11 (1), p.5-5, Article 5 [Periódico revisado por pares]England: BioMed Central Ltd
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