Impact of Genomic Variation on Function
@igvfconsortium.bsky.social
How do genetic variants affect secreted proteins?
A new study introduces MultiSTEP, a scalable method for measuring variant effects in coagulation factor IX. The approach assessed >8,500 F9 missense variants and helped reclassify 63.1% of VUSs.
pubmed.ncbi.nlm.nih.gov/40514537/