Journal article
Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy
- Abstract:
-
Background Although rare missense variants in Mendelian disease genes often cluster in specific regions of proteins, it is unclear how to consider this when evaluating the pathogenicity of a gene or variant. Here we introduce methods for gene association and variant interpretation that use this powerful signal.
Methods We present statistical methods to detect missense variant clustering (BIN-test) combined with burden information (ClusterBurden). We in...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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Authors
Bibliographic Details
- Publisher:
- BMJ Publishing Group Publisher's website
- Journal:
- Journal of Medical Genetics Journal website
- Volume:
- 58
- Issue:
- 8
- Pages:
- 556-564
- Publication date:
- 2020-07-30
- Acceptance date:
- 2020-06-20
- DOI:
- EISSN:
-
1468-6244
- ISSN:
-
0022-2593
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
1069962
- Local pid:
- pubs:1069962
- Deposit date:
- 2020-03-18
Terms of use
- Copyright holder:
- Waring et al.
- Copyright date:
- 2020
- Rights statement:
- © Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made.
- Licence:
- CC Attribution (CC BY)
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