Evidence map›Paper›PMID 36350676›Full record

ArticleNucleic acids research2023

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

Hufeng Zhou, Theodore Arapoglou, Xihao Li, Zilin Li, Xiuwen Zheng, Jill Moore, Abhijith Asok, Sushant Kumar, Elizabeth E Blue, Steven Buyske and 15 more

Abstract read
In one paragraph

Article in Nucleic acids research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 114 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
114citing papers in PubMed, 7 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

114 citing papers in PubMed, 7 syntheses or guidelines pooled it.

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  6. Identification of 16 novel Alzheimer's disease loci using multi-ancestry meta-analyses.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
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54 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

25 authors.

Hufeng ZhouDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.ORCID 0000-0001-9382-5674
Theodore ArapoglouDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Xihao LiDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.ORCID 0000-0001-8151-0106
Zilin LiDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.ORCID 0000-0003-1521-8945
Xiuwen ZhengDepartment of Biostatistics, University of Washington, Seattle, WA 98195, USA.
Jill MooreProgram in Bioinformatics and Integrative Biology, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Abhijith AsokMicrosoft Inc. Redmond, WA, USA.
Sushant KumarDepartment of Medical Biophysics, University of Toronto, Toronto, ON, Canada.
Elizabeth E BlueDivision of Medical Genetics, University of Washington, Seattle, WA, USA.
Steven BuyskeDepartment of Statistics, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.
Nancy CoxDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Adam FelsenfeldNational Human Genome Research Institute, Bethesda, DC, USA.
Mark GersteinProgram in Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.
Eimear KennyDepartment of Genetics and Genomic Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Bingshan LiDepartment of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0003-2129-168X
Tara MatiseDepartment of Genetics, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.
Anthony PhilippakisData Science Platform, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Heidi L RehmProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Heidi J SofiaNational Human Genome Research Institute, Bethesda, DC, USA.
Grace SnyderNational Human Genome Research Institute, Bethesda, DC, USA.
NHGRI Genome Sequencing Program Variant Functional Annotation Working Group
Zhiping WengProgram in Bioinformatics and Integrative Biology, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Benjamin NealeProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Shamil R SunyaevProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Xihong LinDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.ORCID 0000-0001-7067-7752

Funding

Translating Molecular and Clinical Data to Population Lung Cancer Risk AssessmentU19CA203654 · NCI · UNIVERSITY OF NEW MEXICO HEALTH SCIS CTR · PI Christopher I. Amos · 2017 to 2026
$23.7M
Statistical Methods for Analysis of Massive Genetic and Genomic Data in Cancer ResearchR35CA197449 · NCI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI XIHONG LIN · 2015 to 2026
$10.9M
Spatial patterns of metals and metal mixtures in drinking waterP42ES030990 · NIEHS · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI ZIMMERMAN, JULIE · 2020 to 2024
$8.3M
Powering whole genome sequence-based genetic discovery for common human diseases- Extended 2021-2022.U01HG009088 · NHGRI · HARVARD SCHOOL OF PUBLIC HEALTH · PI LIN, XIHONG, NEALE, BENJAMIN MICHAEL · 2016 to 2021
$5.1M
Predictive Modeling of the Functional and Phenotypic Impacts of Genetic VariantsU01HG012064 · NHGRI · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI Manuel Garber, XIHONG LIN · 2021 to 2026
$4.0M
Statistical Methods for Integrative Analysis of Large-Scale Whole Genome Sequencing Studies and Biobanks of Common DiseasesR01HL163560 · NHLBI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI XIHONG LIN · 2022 to 2026
$2.6M
Constructing multi-omics regulatory networks for functional variant annotationR03OD030608 · OD · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI WENG, ZHIPING · 2020 to 2020
$335k
NCI NIH HHS R35 CA197449NCI NIH HHS U19 CA203654NHGRI NIH HHS U01 HG009088NHGRI NIH HHS U01 HG012064NHLBI NIH HHS R01 HL163560NIEHS NIH HHS P42 ES030990NIH HHS R03 OD030608
6 · The paper itself

Abstract

Large biobank-scale whole genome sequencing (WGS) studies are rapidly identifying a multitude of coding and non-coding variants. They provide an unprecedented resource for illuminating the genetic basis of human diseases. Variant functional annotations play a critical role in WGS analysis, result interpretation, and prioritization of disease- or trait-associated causal variants. Existing functional annotation databases have limited scope to perform online queries and functionally annotate the genotype data of large biobank-scale WGS studies. We develop the Functional Annotation of Variants Online Resources (FAVOR) to meet these pressing needs. FAVOR provides a comprehensive multi-faceted variant functional annotation online portal that summarizes and visualizes findings of all possible nine billion single nucleotide variants (SNVs) across the genome. It allows for rapid variant-, gene- and region-level queries of variant functional annotations. FAVOR integrates variant functional information from multiple sources to describe the functional characteristics of variants and facilitates prioritizing plausible causal variants influencing human phenotypes. Furthermore, we provide a scalable annotation tool, FAVORannotator, to functionally annotate large-scale WGS studies and efficiently store the genotype and their variant functional annotation data in a single file using the annotated Genomic Data Structure (aGDS) format, making downstream analysis more convenient. FAVOR and FAVORannotator are available at https://favor.genohub.org.

Indexed as

Genome, HumanSoftwareGenetic VariationGenomicsGenotypeHumansMolecular Sequence Annotation

Identifiers

PMID36350676
PMCPMC9825437

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.