Integrate dbSNP for variant interpretation

webyrd / mediKanren

Proof-of-concept for reasoning over the SemMedDB knowledge base, using miniKanren + heuristics + indexing.

MIT License

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Integrate dbSNP for variant interpretation #3

Open mattmight opened 6 years ago

mattmight commented 6 years ago

https://www.ncbi.nlm.nih.gov/snp/

andrewsu commented 6 years ago

Many (most?) annotations of human genetic variants can be accessed programmatically through myvariant.info. Happy to walk you through usage, and let me know if there's an annotation resource that's not there...