Additional file 2: of 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; Marvao, Antonio; Day, Sharlene; Ashley, Euan; Colan, Steven; Michels, Michelle; Pereira, Alexandre; Jacoby, Daniel; Ho, Carolyn; Thomson, Kate; Watkins, Hugh; Barton, Paul; Olivotto, Iacopo; Cook, Stuart; Ware, James

doi:10.6084/m9.figshare.7648520.v1

13073_2019_616_MOESM2_ESM.docx (742.11 kB)

Additional file 2: of Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

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posted on 2019-01-29, 05:00 authored by 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 Marvao, Sharlene Day, Euan Ashley, Steven Colan, Michelle Michels, Alexandre Pereira, Daniel Jacoby, Carolyn Ho, Kate Thomson, Hugh Watkins, Paul Barton, Iacopo Olivotto, Stuart Cook, James Ware

Supplementary figures S1 and S2. (DOCX 742 kb)

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Variant interpretation Mendelian genetics Hypertrophic cardiomyopathy ACMG/AMP guidelines

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Additional file 2: of Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

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