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--- resources [2021/08/22 17:09] – created - external edit 127.0.0.1
+++ resources [2023/01/30 17:51] (current) – cassa
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-** Integrated predictions of clinical risk **
+**Clintegrate: Integrated predictions of clinical risk **
-[[https://clintegrate.herokuapp.com/|Clintegrate]] provides clinical risk assessments that are personalized for individuals who carry genetic variants in well-known disease genes such as BRCA1 and LDLR. Many healthy people carry genetic variants in these disease genes, yet the risk of developing the related disorder is low for most of them.
+[[https://clintegrate.herokuapp.com/|Clintegrate]] provides clinical risk assessments that are personalized for individuals who carry genetic variants in well-known disease genes such as //BRCA1// and //LDLR//. Many healthy people carry genetic variants in these disease genes, yet the risk of developing the related disorder is low for most of them.
-**Gene-based selection scores**
+**//s_het//: Gene-based selection scores**
 On this [[http://genetics.bwh.harvard.edu/genescores/selection.html|site]], we share gene-based estimates of selection strength for heterozygous protein truncating variants.
+**Tocayo: Identifying related variants with evidence of pathogenicity**
+[[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.
+**FUSE:**
+[[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.
 **Gene-based relevance scores from published literature**