Evidence map›Paper›PMID 39387060›Full record

ArticleBioinformatics advances2024

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

Thomas Cheng Li, Hufeng Zhou, Vineet Verma, Xiangru Tang, Yanjun Shao, Eric Van Buren, Zhiping Weng, Mark Gerstein, Benjamin Neale, Shamil R Sunyaev and 1 more

Abstract read
In one paragraph

Article in Bioinformatics advances, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–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

3 citing papers in PubMed.

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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

11 authors.

Thomas Cheng LiDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, 02115, United States.
Hufeng ZhouDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, 02115, United States.ORCID https://orcid.org/0000-0001-9382-5674
Vineet VermaDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, 02115, United States.
Xiangru TangDepartment of Computer Science, Yale University, New Haven, CT, 06520, United States.ORCID https://orcid.org/0009-0006-2700-4513
Yanjun ShaoDepartment of Computer Science, Yale University, New Haven, CT, 06520, United States.
Eric Van BurenDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, 02115, United States.
Zhiping WengProgram in Bioinformatics and Integrative Biology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, United States.ORCID https://orcid.org/0000-0002-3032-7966
Mark GersteinProgram in Computational Biology and Bioinformatics, Yale University, New Haven, CT, 06520, United States.
Benjamin NealeAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, United States.ORCID https://orcid.org/0000-0003-1513-6077
Shamil R SunyaevProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 02142, United States.
Xihong LinDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, 02115, United States.ORCID https://orcid.org/0000-0001-7067-7752

Funding

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
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
NCI NIH HHS R35 CA197449NHGRI NIH HHS U01 HG012064NHLBI NIH HHS R01 HL163560NIEHS NIH HHS P42 ES030990
6 · The paper itself

Abstract

Motivation: Functional Annotation of genomic Variants Online Resources (FAVOR) offers multi-faceted, whole genome variant functional annotations, which is essential for Whole Genome and Exome Sequencing (WGS/WES) analysis and the functional prioritization of disease-associated variants. A versatile chatbot designed to facilitate informative interpretation and interactive, user-centric summary of the whole genome variant functional annotation data in the FAVOR database is needed. Results: We have developed FAVOR-GPT, a generative natural language interface powered by integrating large language models (LLMs) and FAVOR. It is developed based on the Retrieval Augmented Generation (RAG) approach, and complements the original FAVOR portal, enhancing usability for users, especially those without specialized expertise. FAVOR-GPT simplifies raw annotations by providing interpretable explanations and result summaries in response to the user's prompt. It shows high accuracy when cross-referencing with the FAVOR database, underscoring the robustness of the retrieval framework. Availability and implementation: Researchers can access FAVOR-GPT at FAVOR's main website (https://favor.genohub.org).

Identifiers

PMID39387060
PMCPMC11461909

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LicenceCC BY
Read underepoch 390

Registered trials

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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.