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

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

10.1186/s13073-019-0616-z

Saved in:
Bibliographic Details
Main Authors: Walsh, R., Mazzarotto, F., Whiffin, N., Buchan, R., Midwinter, W., Wilk, A., Li, N., Felkin, L., Ingold, N., Govind, R., Ahmad, M., Mazaika, E., Allouba, M., Zhang, X., De Marvao, A., Day, S.M., Ashley, E., Colan, S.D., Michels, M., Pereira, A.C., Jacoby, D., Ho, C.Y., Thomson, K.L., Watkins, H., Barton, P.J.R., Olivotto, I., Cook, S.A., Ware, J.S.
Other Authors: DUKE-NUS MEDICAL SCHOOL
Format: Article
Published: BioMed Central Ltd. 2021
Subjects:
ACMG/AMP guidelines
Hypertrophic cardiomyopathy
Mendelian genetics
Variant interpretation
Online Access:https://scholarbank.nus.edu.sg/handle/10635/212331
Tags: Add Tag
No Tags, Be the first to tag this record!
Institution: National University of Singapore
id sg-nus-scholar.10635-212331
record_format dspace
spelling sg-nus-scholar.10635-2123312023-11-01T08:47:32Z Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: The case of hypertrophic cardiomyopathy Walsh, R. Mazzarotto, F. Whiffin, N. Buchan, R. Midwinter, W. Wilk, A. Li, N. Felkin, L. Ingold, N. Govind, R. Ahmad, M. Mazaika, E. Allouba, M. Zhang, X. De Marvao, A. Day, S.M. Ashley, E. Colan, S.D. Michels, M. Pereira, A.C. Jacoby, D. Ho, C.Y. Thomson, K.L. Watkins, H. Barton, P.J.R. Olivotto, I. Cook, S.A. Ware, J.S. DUKE-NUS MEDICAL SCHOOL ACMG/AMP guidelines Hypertrophic cardiomyopathy Mendelian genetics Variant interpretation 10.1186/s13073-019-0616-z Genome Medicine 11 1 5 2021-12-29T04:37:19Z 2021-12-29T04:37:19Z 2019 Article Walsh, R., Mazzarotto, F., Whiffin, N., Buchan, R., Midwinter, W., Wilk, A., Li, N., Felkin, L., Ingold, N., Govind, R., Ahmad, M., Mazaika, E., Allouba, M., Zhang, X., De Marvao, A., Day, S.M., Ashley, E., Colan, S.D., Michels, M., Pereira, A.C., Jacoby, D., Ho, C.Y., Thomson, K.L., Watkins, H., Barton, P.J.R., Olivotto, I., Cook, S.A., Ware, J.S. (2019). Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: The case of hypertrophic cardiomyopathy. Genome Medicine 11 (1) : 5. ScholarBank@NUS Repository. https://doi.org/10.1186/s13073-019-0616-z 1756994X https://scholarbank.nus.edu.sg/handle/10635/212331 Attribution 4.0 International https://creativecommons.org/licenses/by/4.0/ BioMed Central Ltd. Scopus OA2019
institution National University of Singapore
building NUS Library
continent Asia
country Singapore
Singapore
content_provider NUS Library
collection ScholarBank@NUS
topic ACMG/AMP guidelines
Hypertrophic cardiomyopathy
Mendelian genetics
Variant interpretation
spellingShingle ACMG/AMP guidelines
Hypertrophic cardiomyopathy
Mendelian genetics
Variant interpretation
Walsh, R.
Mazzarotto, F.
Whiffin, N.
Buchan, R.
Midwinter, W.
Wilk, A.
Li, N.
Felkin, L.
Ingold, N.
Govind, R.
Ahmad, M.
Mazaika, E.
Allouba, M.
Zhang, X.
De Marvao, A.
Day, S.M.
Ashley, E.
Colan, S.D.
Michels, M.
Pereira, A.C.
Jacoby, D.
Ho, C.Y.
Thomson, K.L.
Watkins, H.
Barton, P.J.R.
Olivotto, I.
Cook, S.A.
Ware, J.S.
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: The case of hypertrophic cardiomyopathy
description 10.1186/s13073-019-0616-z
author2 DUKE-NUS MEDICAL SCHOOL
author_facet DUKE-NUS MEDICAL SCHOOL
Walsh, R.
Mazzarotto, F.
Whiffin, N.
Buchan, R.
Midwinter, W.
Wilk, A.
Li, N.
Felkin, L.
Ingold, N.
Govind, R.
Ahmad, M.
Mazaika, E.
Allouba, M.
Zhang, X.
De Marvao, A.
Day, S.M.
Ashley, E.
Colan, S.D.
Michels, M.
Pereira, A.C.
Jacoby, D.
Ho, C.Y.
Thomson, K.L.
Watkins, H.
Barton, P.J.R.
Olivotto, I.
Cook, S.A.
Ware, J.S.
format Article
author Walsh, R.
Mazzarotto, F.
Whiffin, N.
Buchan, R.
Midwinter, W.
Wilk, A.
Li, N.
Felkin, L.
Ingold, N.
Govind, R.
Ahmad, M.
Mazaika, E.
Allouba, M.
Zhang, X.
De Marvao, A.
Day, S.M.
Ashley, E.
Colan, S.D.
Michels, M.
Pereira, A.C.
Jacoby, D.
Ho, C.Y.
Thomson, K.L.
Watkins, H.
Barton, P.J.R.
Olivotto, I.
Cook, S.A.
Ware, J.S.
author_sort Walsh, R.
title Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: The case of hypertrophic cardiomyopathy
title_short Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: The case of hypertrophic cardiomyopathy
title_full Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: The case of hypertrophic cardiomyopathy
title_fullStr Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: The case of hypertrophic cardiomyopathy
title_full_unstemmed Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: The case of hypertrophic cardiomyopathy
title_sort quantitative approaches to variant classification increase the yield and precision of genetic testing in mendelian diseases: the case of hypertrophic cardiomyopathy
publisher BioMed Central Ltd.
publishDate 2021
url https://scholarbank.nus.edu.sg/handle/10635/212331
_version_ 1781792948648673280

Similar Items