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Clinical-Genomics / scout

VCF visualization interface
https://clinical-genomics.github.io/scout
BSD 3-Clause "New" or "Revised" License
150 stars 46 forks source link

Check out MetaDome #1254

Open moonso opened 5 years ago

moonso commented 5 years ago

MetaDome is a tool that scores positions based on how sensitive the position is to changes. Similar to pLi but it uses the information from protein domains combined with variant frequencies. We should investigate if we can score variants and include in rank model or at least link out to the web based tool.

MetaDome is a fast and easy-to-use web server that offers an easily accessible and unique perspective that enables researchers and clinicians to interpret variants of unknown significance via 'meta-domains'; a concept that we have previously validated ( L. Wiel et al. Human Mutation, 2017 ) which makes use of protein domain homology within the human genome to transfer genetic variant information across homologous domains. MetaDome can visualize meta-domain information and gene-wide profiles of genetic tolerance.

Browser: https://stuart.radboudumc.nl/metadome/ GitHub: https://github.com/cmbi/metadome

dnil commented 2 years ago

Downloadable data is now available! See https://github.com/cmbi/metadome/issues/54#event-6772329823 and https://zenodo.org/record/6625251.