▲ 2 r/bioinformatics
Working with large variant datasets from GWAS/WGS and finding that most tools (CADD, REVEL, AlphaMissense) focus primarily on coding regions.
For the 98% non-coding genome, the options seem limited — especially for batch processing thousands of variants across multiple modalities (expression, splicing, accessibility, TF binding).
Has anyone tried platforms built on the newer AlphaGenome model? Came across VariantIQ (variantiq.org) which seems to wrap AlphaGenome into a web interface with CSV upload and batch scoring.
Curious what others are using for this workflow, or if most labs are still building custom pipelines.
u/Ill-Reflection5216 — 12 days ago