Evidence map›Paper›PMID 38037121›Full record

ArticleJournal of the American Medical Informatics Association : JAMIA2024

Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup.

Nephi A Walton, Radha Nagarajan, Chen Wang, Murat Sincan, Robert R Freimuth, David B Everman, Derek C Walton, Scott P McGrath, Dominick J Lemas, Panayiotis V Benos and 9 more

Abstract read
In one paragraph

Article in Journal of the American Medical Informatics Association : JAMIA, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Review
  6. A comparative evaluation of ChatGPT 3.5 and ChatGPT 4 in responses to selected genetics questions.Journal of the American Medical Informatics Association : JAMIA · 2024
    Article
  7. Review
  8. Article
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

19 authors.

Nephi A WaltonDivision of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112 ,United States.
Radha NagarajanEnterprise Information Services, Cedars-Sinai Medical Center, Los Angeles, CA 90025, United States.
Chen WangDivision of Computational Biology, Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, United States.ORCID 0000-0003-2638-3081
Murat SincanFlatiron Health, New York, NY 10013, United States.
Robert R FreimuthDepartment of Artificial Intelligence and Informatics, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, United States.
David B EvermanEverMed Genetics and Genomics Consulting LLC, Greenville, SC 29607, United States.
Derek C WaltonWalton Legal PLLC, Murray, UT 84123, United States.
Scott P McGrathCITRIS Health, CITRIS and Banatao Institute, University of California Berkeley, Berkeley, CA 94720, United States.
Dominick J LemasDepartment of Health Outcomes and Biomedical Informatics, University of Florida, Gainesville, FL 32610, United States.
Panayiotis V BenosDepartment of Epidemiology, University of Florida, Gainesville, FL 32610, United States.ORCID 0000-0003-3172-3132
Alexander V AlekseyenkoDepartment of Public Health Sciences, Biomedical Informatics Center, Medical University of South Carolina, Charleston, SC 29403, United States.ORCID 0000-0002-5748-2085
Qianqian SongDepartment of Health Outcomes and Biomedical Informatics, University of Florida, Gainesville, FL 32610, United States.ORCID 0000-0002-4455-5302
Ece Gamsiz UzunDepartment of Pathology and Laboratory Medicine, Rhode Island Hospital and Lifespan Medical Center, Providence, RI 02915, United States.
Casey Overby TaylorDepartments of Medicine and Biomedical Engineering, Johns Hopkins School of Medicine, Baltimore, MD 21205, United States.
Alper UzunDepartment of Pathology and Laboratory Medicine, Warren Alpert Medical School of Brown University, Providence, RI 02915, United States.
Thomas Nate PersonDepartment of Bioinformatics and Genomics, Huck Institutes of the Life Sciences, Penn State University, Bloomsburg, PA 16802, United States.
Nadav RappoportDepartment of Software and Information Systems Engineering, Ben-Gurion University of the Negev, Beer Sheva 8410501, Israel.ORCID 0000-0002-7218-2558
Zhongming ZhaoCenter for Precision Health, McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, United States.ORCID 0000-0002-3477-0914
Marc S WilliamsDepartment of Genomic Health, Geisinger, Danville, PA 17822, United States.

Funding

ClinGen AI Data Delivery SupplementU24HG006834 · NHGRI · BROAD INSTITUTE, INC. · PI Marina DiStefano, CHRISTA LESE MARTIN · 2021 to 2026
$26.7M
South Carolina Cancer Disparities Research Center (SC CADRE)U54CA210962 · NCI · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI FORD, MARVELLA ELIZABETH, SALLEY, JUDITH · 2017 to 2023
$6.7M
Genomic Analysis of Tissue and Cellular Heterogeneity in IPFR01HL127349 · NHLBI · YALE UNIVERSITY · PI BENOS, PANAGIOTIS V, KAMINSKI, NAFTALI · 2015 to 2025
$5.9M
AIM-AI: an Actionable, Integrated and Multiscale genetic map of Alzheimer's disease via deep learningU01AG079847 · NIA · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI Christopher A. Gaiteri, Xiaoqian Jiang · 2023 to 2026
$5.1M
Transforming dbGaP genetic and genomic data to FAIR-ready by artificial intelligence and machine learning algorithmsR01LM012806 · NLM · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI Zhongming Zhao · 2017 to 2026
$3.7M
Biomarkers of Alcoholic HepatitisR01AA028436 · NIAAA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI ARTEEL, GAVIN E, BENOS, PANAGIOTIS V · 2020 to 2024
$3.0M
COPD SUBTYPES AND EARLY PREDICTION USING INTEGRATIVE PROBABILISTIC GRAPHICAL MODELS R01HL157879R01HL157879 · NHLBI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI BENOS, PANAGIOTIS V, SCIURBA, FRANK · 2021 to 2024
$2.9M
Integrated Knowledge Management Framework for Clinical GenomicsR35HG011899 · NHGRI · MAYO CLINIC ROCHESTER · PI FREIMUTH, ROBERT RICHARD · 2021 to 2025
$2.4M
Deep learning for decoding genetic regulation and cellular maps in craniofacial developmentR01DE030122 · NIDCR · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI IWATA, JUNICHI, ZHAO, ZHONGMING · 2021 to 2023
$1.7M
Distance-based Panomic Analytics for Microbiome DataR01LM012517 · NLM · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI ALEKSEYENKO, ALEXANDER V · 2018 to 2021
$1.3M
Multi-modal insights of spatially distributed cells with associations of diseases and drug responseR35GM151089 · NIGMS · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI Qianqian Song · 2023 to 2026
$1.2M
Human milk metabolomics and microbe-host interactions associated with pediatric obesityK01DK115632 · NIDDK · UNIVERSITY OF FLORIDA · PI LEMAS, DOMINICK JOSEPH · 2019 to 2023
$831k
NCI NIH HHS U54 CA210962NHGRI NIH HHS R35 HG011899NHGRI NIH HHS U24 HG006834NHLBI NIH HHS R01 HL127349NHLBI NIH HHS R01 HL157879NIAAA NIH HHS R01 AA028436NIA NIH HHS R03 AG077191NIA NIH HHS U01 AG079847NIDCR NIH HHS R01 DE030122NIDDK NIH HHS K01 DK115632NIGMS NIH HHS R35 GM151089NIH HHSNIH HHS R01HL127349NLM NIH HHS R01 LM012517NLM NIH HHS R01 LM012806
6 · The paper itself

Abstract

objectiveGiven the importance AI in genomics and its potential impact on human health, the American Medical Informatics Association-Genomics and Translational Biomedical Informatics (GenTBI) Workgroup developed this assessment of factors that can further enable the clinical application of AI in this space. PROCESS: A list of relevant factors was developed through GenTBI workgroup discussions in multiple in-person and online meetings, along with review of pertinent publications. This list was then summarized and reviewed to achieve consensus among the group members.

conclusionsSubstantial informatics research and development are needed to fully realize the clinical potential of such technologies. The development of larger datasets is crucial to emulating the success AI is achieving in other domains. It is important that AI methods do not exacerbate existing socio-economic, racial, and ethnic disparities. Genomic data standards are critical to effectively scale such technologies across institutions. With so much uncertainty, complexity and novelty in genomics and medicine, and with an evolving regulatory environment, the current focus should be on using these technologies in an interface with clinicians that emphasizes the value each brings to clinical decision-making.

Indexed as

Artificial IntelligenceMedicineComputational BiologyGenomicsHumansartificial intelligencebioinformaticsclinical genomicsgenomicsmachine learningtranslational bioinformatics

Identifiers

PMID38037121
PMCPMC10797281

What OpenQuestion holds

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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.