Variant annotation and interpretation

FAVOR

FAVOR is a functional annotation resource and software ecosystem for interpreting human genetic variation across the genome.

Overview

FAVOR

FAVOR brings variant annotation, interactive search, batch analysis, and downloadable resources into one accessible system. FAVOR 2.0 expands the annotation landscape and modernizes the infrastructure, while FAVOR-GPT explores natural-language access to complex annotation results.

  • Open-access portal for functional annotation of human genetic variants.
  • FAVOR 2.0 expands annotations, web interface capabilities, API infrastructure, and visualization.
  • FAVORannotator integrates annotation data with genotype data into analysis-ready aGDS files.
  • FAVOR-GPT provides a natural-language interface for exploring and interpreting annotation results.
FAVOR portalDocumentationGoogle Scholar profile
FAVOR figure

Publications

Related work

Representative publications connected to this project.

2026

FAVOR 2.0: A reengineered functional annotation of variants online resource for interpreting genomic variation.

Zhou H, Verma V, Li X, Li Z, Shedd N, Li TC, Yang H, Zhang A, Borsari B, Buyske S, Gerstein M, Matise T, Zody MC, Neale B, Weng Z, Sunyaev SR, Lin X.

Nucleic Acids Res. 2026;54(D1):D1405-D1414.

DOIPubMed
2024

FAVOR-GPT: a generative natural language interface to whole genome variant functional annotations.

Li TC, Zhou H, Verma V, Tang X, Shao Y, Van Buren E, Weng Z, Gerstein M, Neale B, Sunyaev SR, Lin X.

Bioinform Adv. 2024;4(1):vbae143.

DOIPubMed
2023

FAVOR: functional annotation of variants online resource and annotator for variation across the human genome.

Zhou H, Arapoglou T, Li X, Li Z, Zheng X, Moore J, Asok A, Kumar S, Blue EE, Buyske S, Cox N, Felsenfeld A, Gerstein M, Kenny E, Li B, Matise T, Philippakis A, Rehm HL, Sofia HJ, Snyder G, Weng Z, Neale B, Sunyaev SR, Lin X.

Nucleic Acids Res. 2023;51(D1):D1300-D1311.

DOIPubMed