Topic: variant-interpretation Goto Github
Some thing interesting about variant-interpretation
Some thing interesting about variant-interpretation
variant-interpretation,hReg-CNCC is a high-quality Regulatory network of Cranial Neural Crest Cell (CNCC), built by consensus optimization.
Organization: amsswanglab
variant-interpretation,SpecVar is a convenient tool for estimating interpretable genetic correlation of human complex traits and annotating the SNPs with context specific regulatory networks
Organization: amsswanglab
variant-interpretation,genetic variant expressions, annotation, and filtering for great good.
User: brentp
variant-interpretation, MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their mutation of interest in the context of general population-based genetic variation and provide detailed information of pathogenic variants found across homologous domain positions.
Organization: cmbi
Home Page: https://stuart.radboudumc.nl/metadome/
variant-interpretation,Aid for explanation of genetic variants in human
User: genegee
variant-interpretation,LOVD+ -- LOVD for diagnostics: analysis of whole-exome data using LOVD.
Organization: lovdnl
Home Page: http://www.LOVD.nl/plus
variant-interpretation,Variant Interpretation Pipeline
Organization: molgenis
Home Page: https://molgenis.github.io/vip/
variant-interpretation,Personal Cancer Genome Reporter (PCGR)
User: sigven
Home Page: https://sigven.github.io/pcgr
variant-interpretation,PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
Organization: wglab
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