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

The Functional Annotation of Variants Online Resource (FAVOR), http://favor.genohub.org, is a whole genome variant annotation database and portal that provides comprehensive variant functional annotations of all possible variants across the genome. It can facilitate the analysis of whole-genome sequencing studies, support the interpretation of variant functional impacts, and help prioritize causal variants of diseases or traits. To support the growing popularity and expand the scope of FAVOR, we present here a substantial platform update. The new release features dramatically expanded annotations, a completely redesigned infrastructure powered by a newly implemented application programming interface (FAVOR-API), and a revamped web interface with advanced data-visualization capabilities and enhanced query performance. Key expansions include much more comprehensive variant annotations, including global, tissue- and cell-type-specific variant annotations; gene and protein annotations; support for both hg38 and hg19 reference genomes; and an interactive genome-browser for visualization of multi-faceted variant annotations. The updated platform also includes FAVOR-GPT, a large language model-powered interface for navigating the FAVOR database and interpreting results. FAVOR continues to evolve to keep pace with advances in research on interpreting the functional and phenotypic impact of genomic variation.

Authors

Institutions

Publication Details

Journal
Nucleic Acids Research
Published
2025-10-21
DOI
https://doi.org/10.1093/nar/gkaf1217
Citations
1
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
1.82
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

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

Benjamin M. Neale, Haoyu Yang, Steven Buyske, Xihong Lin et al.
1 citations
Nucleic Acids Research
Genomics and Rare Diseases
1.82
article

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

Benjamin M. Neale, Haoyu Yang, Steven Buyske, Xihong Lin, Michael C. Zody, Mark Gerstein, Tara C. Matise, Vineet Verma, Alvin Zhang, Hufeng Zhou, Zhiping Weng, Xihao Li, Nicole Shedd, Zilin Li, Beatrice Borsari, Thomas Cheng Li, Shamil R. Sunyaev
article en
1 citations

Abstract

The Functional Annotation of Variants Online Resource (FAVOR), http://favor.genohub.org, is a whole genome variant annotation database and portal that provides comprehensive variant functional annotations of all possible variants across the genome. It can facilitate the analysis of whole-genome sequencing studies, support the interpretation of variant functional impacts, and help prioritize causal variants of diseases or traits. To support the growing popularity and expand the scope of FAVOR, we present here a substantial platform update. The new release features dramatically expanded annotations, a completely redesigned infrastructure powered by a newly implemented application programming interface (FAVOR-API), and a revamped web interface with advanced data-visualization capabilities and enhanced query performance. Key expansions include much more comprehensive variant annotations, including global, tissue- and cell-type-specific variant annotations; gene and protein annotations; support for both hg38 and hg19 reference genomes; and an interactive genome-browser for visualization of multi-faceted variant annotations. The updated platform also includes FAVOR-GPT, a large language model-powered interface for navigating the FAVOR database and interpreting results. FAVOR continues to evolve to keep pace with advances in research on interpreting the functional and phenotypic impact of genomic variation.

Nucleic Acids ResearchVol. 54(D1)
Rutgers, The State University of New Jersey (US), Broad Institute (US), University of North Carolina at Chapel Hill (US), Harvard University (US), University of Massachusetts Chan Medical School (US), Northeast Normal University (CN), Yale University (US), Massachusetts General Hospital (US), Middlesex University Malta (MT), New York Genome Center (US), Middlesex University Mauritius (MU), Weston College (GB)
Openalex Percentile: Top 11%
Genomics and Rare Diseases
1.82
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.