Evidence map›Paper›PMID 41793414›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2026

Sequencing and health data resource of children of African ancestry.

Leah C Kottyan, Scott Richards, Morgan E Tracy, Lucinda P Lawson, Isabelle C Kottyan, Annika Curwin, Beth Cobb, Steve Esslinger, Margaret Gerwe, James Morgan and 26 more

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Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

36 authors.

Leah C KottyanDepartment of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH; Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH. Electronic address: leah.kottyan@cchmc.org.
Scott RichardsDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Morgan E TracyDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Discover Together Biobank, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Lucinda P LawsonDivision of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Isabelle C KottyanDivision of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Annika CurwinDivision of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Beth CobbCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Center for Stem Cell and Organoid Medicine (CuSTOM), Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Steve EsslingerDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Discover Together Biobank, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Margaret GerweDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Discover Together Biobank, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
James MorganDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Discover Together Biobank, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Alka ChandelInformation Services for Research (IS4R), Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Leksi TravitzDepartment of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Yongbo HuangDepartment of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Catherine BlackDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Agboade SobowaleDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Office of Community Relations, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Tinuke AkintobiOffice of Community Relations, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Monica J MitchellDepartment of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH; Office of Community Relations, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Division of Behavioral Medicine and Clinical Psychology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Andrew F BeckDepartment of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH; Division of General and Community Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Division of Hospital Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Office of Population Health and Michael Fisher Child Health Equity Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Anderson Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Ndidi UnakaDepartment of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH; Division of General and Community Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.
Michael SeidDepartment of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH; Anderson Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Sonja FairbanksDivision of Hospital Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Michelle AdamsCincinnati Children's Research Foundation, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Tesfaye B MershaDepartment of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH; Division of Asthma Research, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Bahram NamjouDepartment of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Michael W PauciuloDepartment of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Discover Together Biobank, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Jeffrey R StrawnDepartment of Psychiatry and Behavioral Neuroscience, University of Cincinnati School of Medicine, Cincinnati, OH.
Robert T AmmermanDivision of Behavioral Medicine and Clinical Psychology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, OH.
Daniel SantelDivision of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinatti, OH.
John PestianDepartment of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH; Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinatti, OH; Computational Medicine Center, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Tracy GlauserDepartment of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Cynthia A ProwsDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Lisa J MartinDepartment of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Louis MugliaDepartment of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
John B HarleyUS Department of Veterans Affairs Medical Center, Cincinnati, OH.
Iouri ChepelevUS Department of Veterans Affairs Medical Center, Cincinnati, OH; Research Service, US Department of Veterans Affairs Medical Center, Cincinnati, OH.
Kenneth M KaufmanDepartment of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; US Department of Veterans Affairs Medical Center, Cincinnati, OH. Electronic address: kenneth.kaufman@cchmc.org.

Funding

Targeting Dendritic Cells for Enhanced Musocal ImmunityU19AI057234 · NIAID · BAYLOR RESEARCH INSTITUTE · PI ZURAWSKI, GERARD · 2003 to 2013
$49.2M
Tissue Repository CoreP30AR070549 · NIAMS · CINCINNATI CHILDRENS HOSP MED CTR · PI Leah Claire Kottyan · 2016 to 2026
$7.7M
Polygenic Risk Scores for Healthier African American FamiliesU01HG011172 · NHGRI · CINCINNATI CHILDRENS HOSP MED CTR · PI Leah Claire Kottyan, LISA J MARTIN · 2020 to 2026
$7.2M
Epigenome-wide variations and socio-environmental exposures in African American asthmatic childrenR01HG011411 · NHGRI · CINCINNATI CHILDRENS HOSP MED CTR · PI MERSHA, TESFAYE B. · 2021 to 2025
$3.4M
Hamilton BiOS M10 Robotic Frozen Storage Unit for the Discover Together BiobankS10OD034289 · OD · CINCINNATI CHILDRENS HOSP MED CTR · PI PAUCIULO, MICHAEL · 2025 to 2025
$2.0M
NHGRI NIH HHS R01 HG011411NHGRI NIH HHS U01 HG011172NIAID NIH HHS U19 AI057234NIAMS NIH HHS P30 AR070549NIH HHS S10 OD034289
6 · The paper itself

Abstract

purposeIndividuals who self-report as Black or African American are historically underrepresented in genome-wide studies of disease risk, a disparity particularly evident in pediatric disease research. To address this gap, Cincinnati Children's Hospital Medical Center (CCHMC) established a biorepository and developed a comprehensive DNA sequencing resource including 15,684 individuals who self-identified as African American or Black and received care at CCHMC.

methodsParticipants were enrolled through the CCHMC Discover Together Biobank and sequenced. Admixture analyses confirmed the genetic ancestry of the cohort, which was then linked to electronic medical records.

resultsGenome-wide genotypes from common variants accompanied by medical record-sourced data are available through the Genomic Information Commons. This data set performs well in genetic studies. Specifically, we replicated known associations in sickle-cell disorder (HBB, HGNC:4827, P = 4.05 × 10

conclusionWe present the acquisition and quality of genetic and disease-associated data and present an analytical framework for using this resource. In partnership with a community advisory council, we have codeveloped a valuable framework for data use and future research.

Indexed as

Black or African AmericanAdolescentAnemia, Sickle CellAsthmaChildChild, PreschoolElectronic Health RecordsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMalePolymorphism, Single NucleotideSequence Analysis, DNAAfrican ancestryCincinnati Children’sElectronic health recordsElectronic medical recordsSequencing Resource

Identifiers

PMID41793414
PMCPMC12970555

What Socratic holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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 Socratic graph.