Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy
<p><strong>Background</strong> 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 var...
| Main Authors: | , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
BMJ Publishing Group
2020
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