ArticleeLife2017
Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.
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In one paragraph
Article in eLife, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 2 of them syntheses that pooled it.
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47citing papers in PubMed, 2 pooled it
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Who cites it
47 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Runs of Homozygosity Predict Inbreeding Depression Across Taxa: A Systematic Review and Meta-Analysis.Molecular ecology · 2026Pooled it
- Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia in 106,160 Patients Across Four Health Care Systems.The American journal of psychiatry · 2019Pooled it
- The rate of identical-by-descent segment sharing between close and distant relatives.HGG advances · 2026Article
- Multiple-testing corrections in case-control studies using identity-by-descent segments.American journal of human genetics · 2026Article
- Exploring the clinical and genetic spectrum of Steel syndrome: two case reports and review of the literature.Frontiers in medicine · 2026Article
- Identity-By-Descent Mapping Using Multi-Individual IBD With Genome-Wide Multiple Testing Adjustment.Genetic epidemiology · 2025Article
- Exposure to per- and poly-fluoroalkyl substances in association to later occurrence of type 2 diabetes and metabolic pathway dysregulation in a multiethnic US population.EBioMedicine · 2025Article
- clusIBD: Robust Detection of Identity-by-descent Segments Using Unphased Genetic Data from Poor-quality Samples.Genomics, proteomics & bioinformatics · 2025Article
- Multiple-testing corrections in case-control studies using identity-by-descent segments.bioRxiv : the preprint server for biology · 2025Article
- Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions.Nature communications · 2025Article
- Genetic disease risks of under-represented founder populations in New York City.PLoS genetics · 2025Article
- Article
- Social determinants of participation in genetic research among Puerto Ricans and in the Puerto Rican diaspora.Social science & medicine (1982) · 2024Article
- Detection of distant relatedness in biobanks to identify undiagnosed cases of Mendelian disease as applied to Long QT syndrome.Nature communications · 2024Article
- Research biobank participants attitudes towards genetic exceptionalism and health record confidentiality.Journal of community genetics · 2024Article
- The genetic contribution to the comorbidity of depression and anxiety: a multi-site electronic health records study of almost 178 000 people.Psychological medicine · 2023Article
- Disease risk and healthcare utilization among ancestrally diverse groups in the Los Angeles region.Nature medicine · 2023Article
- Genome-wide association studies on collagen contents trait for meat quality in Hanwoo.Journal of animal science and technology · 2023Article
- Selecting Clustering Algorithms for Identity-By-Descent Mapping.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2023Article
- Admixture mapping of peripheral artery disease in a Dominican population reveals a putative risk locus on 2q35.Frontiers in genetics · 2023Article
Corrections and comments
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Authors and funding
32 authors.
Gillian Morven BelbinThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.ORCID http://orcid.org/0000-0001-9036-864X
Jacqueline OdgisDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, United States.
Elena P SorokinDepartment of Genetics, Stanford University School of Medicine, Stanford, United States.
Muh-Ching YeeDepartment of Plant Biology, Carnegie Institution for Science, Stanford, United States.
Sumita KohliThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.
Benjamin S GlicksbergDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, United States.
Christopher R GignouxDepartment of Genetics, Stanford University School of Medicine, Stanford, United States.
Genevieve L WojcikDepartment of Genetics, Stanford University School of Medicine, Stanford, United States.
Tielman Van VleckThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.
Janina M JeffThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.
Michael LindermanDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, United States.
Claudia SchurmannThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.
Douglas RuderferBroad Institute, Cambridge, United States.
Xiaoqiang CaiDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, United States.
Amanda MerkelsonThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.
Anne E JusticeDepartment of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, United States.
Kristin L YoungDepartment of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, United States.
Misa GraffDepartment of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, United States.
Kari E NorthDepartment of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, United States.
Ulrike PetersPublic Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, United States.
Regina JamesNational Institute on Minority Health and Health Disparities, National Institutes of Health, Bethesda, United States.
Lucia HindorffNational Human Genome Research Institute, National Institutes of Health, Bethesda, United States.
Ruth KornreichDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, United States.
Lisa EdelmannDepartment of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, United States.
Omri GottesmanThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.
Eli Ea StahlThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.
Judy H ChoThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.
Ruth Jf LoosThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.
Erwin P BottingerThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.
Girish N NadkarniThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.
Noura S Abul-HusnThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.
Eimear E KennyThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, United States.ORCID http://orcid.org/0000-0001-9198-759X
Funding
UNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Melissa A. Troester · 2001 to 2026
$36.3MOptimizing imputation for diverse populations in a distributed frameworkU01HG009080 · NHGRI · STANFORD UNIVERSITY · PI KENNY, EIMEAR ELIZABETH · 2016 to 2020
$5.2MGenetic Epidemiology of Causal Variants across the Life Course Phase II (CALiCo IU01HG007416 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI NORTH, KARI E. · 2013 to 2017
$3.9MEpidemiologic Studies of Putative Functional Variation in Multiethnic CohortU01HG007397 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HAIMAN, CHRISTOPHER ALAN, LE MARCHAND, LOIC · 2013 to 2017
$3.7MNHGRI PAGE Coordinating CenterU01HG007419 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2013 to 2017
$3.7MDiverse ancestry biobank to map biomedical traits and elucidate health disparitieU01HG007417 · NHGRI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI LOOS, RUTH JF · 2013 to 2017
$3.5MExonic variants and their relation to complex traits in minorities of the WHIU01HG007376 · NHGRI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI KOOPERBERG, CHARLES L · 2013 to 2017
$3.2MTransforming Genomics with 5 PB Big Omics Data Engine Cray CS300-AC SupercomputerS10OD018522 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2014 to 2014
$1.9MSex- and Smoking- Specific DNA Methylation Signatures of Central Adiposity ChangeR00HL130580 · NHLBI · GEISINGER CLINIC · PI JUSTICE, ANNE · 2017 to 2019
$745kNHGRI NIH HHS U01 HG007376NHGRI NIH HHS U01 HG007397NHGRI NIH HHS U01 HG007416NHGRI NIH HHS U01 HG007417NHGRI NIH HHS U01 HG007419NHGRI NIH HHS U01 HG009080NHLBI NIH HHS HHSN268201200008CNHLBI NIH HHS HHSN268201200008INHLBI NIH HHS R00 HL130580NIEHS NIH HHS P30 ES010126NIH HHS S10 OD018522
Abstract
Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe a combined approach to identify and characterize a genetic disorder that leverages distantly related patients in a health system and population-scale mapping. We utilize genomic data to uncover components of distant pedigrees, in the absence of recorded pedigree information, in the multi-ethnic Bio
Indexed as
Molecular EpidemiologyPedigreeAdolescentAdultAgedChildCollagen DiseasesFemaleFibrillar CollagensGenotypeHeterozygoteHispanic or LatinoHomozygoteHumansMaleMiddle AgedCOL27A1 protein, humanFibrillar Collagenscollagen disorderElectronic Health Recordsevolutionary biologygenomicsGWAShumanhuman biologymedical geneticsmedicinepopulation genetics
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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.