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GenomeNexus annotate mutation
by Harvard MIMS Lab (ToolUniverse)
Description
Annotate a cancer mutation using Genome Nexus (MSK) by specifying chromosome, start, end, reference allele, and variant allele separately. This is an alternative to the HGVS-based annotation for when you have genomic coordinates directly (GRCh37/hg19). Returns the same comprehensive annotation as GenomeNexus_annotate_variant including VEP consequences, SIFT, PolyPhen, AlphaMissense scores, cancer hotspots, and mutation assessor. Example: chr=7, start=140453136, end=140453136, ref=A, alt=T for...
Installation
pip install tooluniverseStatus
Published
Reviewer
Automated import
Date Added
2026-03-30
Tags
tooluniverse genome-nexus variant-annotation cancer-genomics