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| resources [2023/01/30 17:38] – cassa | resources [2023/01/30 17:51] (current) – cassa |
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| On this [[http://genetics.bwh.harvard.edu/genescores/selection.html|site]], we share gene-based estimates of selection strength for heterozygous protein truncating variants. | On this [[http://genetics.bwh.harvard.edu/genescores/selection.html|site]], we share gene-based estimates of selection strength for heterozygous protein truncating variants. |
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| **Tocayo: Identifying variants with evidence of pathogenicity** | **Tocayo: Identifying related variants with evidence of pathogenicity** |
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| [[https://github.com/cassalab/tocayo|Tocayo]] is a pipeline for analyzing sequence variants which have evidence of pathogenicity according to the PS1, PM5, and PVS1 guidelines specified by the ACMG/AMP. Specifically, the pipeline is meant to analyze VUS in ClinVar and other unclassified nsSNVs. | [[https://github.com/cassalab/tocayo|Tocayo]] is a pipeline for analyzing sequence variants which have evidence of pathogenicity according to the PS1, PM5, and PVS1 guidelines specified by the ACMG/AMP. Specifically, the pipeline is meant to analyze VUS in ClinVar and other unclassified nsSNVs. |
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| | **FUSE:** |
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| | [[https://github.com/cassalab/fuse|FUSE]] is a pipeline to refine and impute functional assay data. We develop a framework to exploit related measurements within and across experimental assays to jointly estimate variant impact. |
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| **Gene-based relevance scores from published literature** | **Gene-based relevance scores from published literature** |