2024
Evaluation of imputation performance of multiple reference panels in a Pakistani population
Xu J, Liu D, Hassan A, Genovese G, Cote A, Fennessy B, Cheng E, Charney A, Knowles J, Ayub M, Peterson R, Bigdeli T, Huckins L. Evaluation of imputation performance of multiple reference panels in a Pakistani population. Human Genetics And Genomics Advances 2024, 6: 100395. PMID: 39696820, PMCID: PMC11759560, DOI: 10.1016/j.xhgg.2024.100395.Peer-Reviewed Original ResearchGenome-wide association studiesReference panelImputation accuracyMultiple reference panelsPakistani individualsGenotype imputationAssociation studiesGenotype dataAncestry compositionEuropean individualsSample sizeTOPMedDiverse populationsPakistani populationImputationGenomeAncestryIndividualsGenotypesPopulationVariantsFuture panelsDissecting the biology of feeding and eating disorders
Huckins L, Brennand K, Bulik C. Dissecting the biology of feeding and eating disorders. Trends In Molecular Medicine 2024, 30: 380-391. PMID: 38431502, DOI: 10.1016/j.molmed.2024.01.009.Peer-Reviewed Original ResearchGenome-wide association studiesVariants to genesGenes to pathwaysSignificant lociFunctional genomicsAssociation studiesGenetic relationshipsIntestinal microbiotaGenetic researchGenomeGenetic correlationsGenesMetabolic contributorsAnorexia nervosaEating disordersPathwayBiologyMetabolic outcomesRisk factorsLociMicrobiotaPhenomicsLethal illnessTraitsFeeding
2023
Leveraging base-pair mammalian constraint to understand genetic variation and human disease
Sullivan P, Meadows J, Gazal S, Phan B, Li X, Genereux D, Dong M, Bianchi M, Andrews G, Sakthikumar S, Nordin J, Roy A, Christmas M, Marinescu V, Wang C, Wallerman O, Xue J, Yao S, Sun Q, Szatkiewicz J, Wen J, Huckins L, Lawler A, Keough K, Zheng Z, Zeng J, Wray N, Li Y, Johnson J, Chen J, Paten B, Reilly S, Hughes G, Weng Z, Pollard K, Pfenning A, Forsberg-Nilsson K, Karlsson E, Lindblad-Toh K, Andrews G, Armstrong J, Bianchi M, Birren B, Bredemeyer K, Breit A, Christmas M, Clawson H, Damas J, Di Palma F, Diekhans M, Dong M, Eizirik E, Fan K, Fanter C, Foley N, Forsberg-Nilsson K, Garcia C, Gatesy J, Gazal S, Genereux D, Goodman L, Grimshaw J, Halsey M, Harris A, Hickey G, Hiller M, Hindle A, Hubley R, Hughes G, Johnson J, Juan D, Kaplow I, Karlsson E, Keough K, Kirilenko B, Koepfli K, Korstian J, Kowalczyk A, Kozyrev S, Lawler A, Lawless C, Lehmann T, Levesque D, Lewin H, Li X, Lind A, Lindblad-Toh K, Mackay-Smith A, Marinescu V, Marques-Bonet T, Mason V, Meadows J, Meyer W, Moore J, Moreira L, Moreno-Santillan D, Morrill K, Muntané G, Murphy W, Navarro A, Nweeia M, Ortmann S, Osmanski A, Paten B, Paulat N, Pfenning A, Phan B, Pollard K, Pratt H, Ray D, Reilly S, Rosen J, Ruf I, Ryan L, Ryder O, Sabeti P, Schäffer D, Serres A, Shapiro B, Smit A, Springer M, Srinivasan C, Steiner C, Storer J, Sullivan K, Sullivan P, Sundström E, Supple M, Swofford R, Talbot J, Teeling E, Turner-Maier J, Valenzuela A, Wagner F, Wallerman O, Wang C, Wang J, Weng Z, Wilder A, Wirthlin M, Xue J, Zhang X. Leveraging base-pair mammalian constraint to understand genetic variation and human disease. Science 2023, 380: eabn2937. PMID: 37104612, PMCID: PMC10259825, DOI: 10.1126/science.abn2937.Peer-Reviewed Original ResearchConceptsHuman genomeHuman diseasesCopy-number variationsHeritable human diseasesGenome annotationVariant annotationGenomic positionsGenomic regionsDisease heritabilityFunctional annotationEvolutionary constraintsAssociation studiesCopy-numberGenetic variationGenetic findingsGenomeCell typesRegulatory landscapeDisease mechanismsAnnotationBiological mechanismsCancer dataMammalsPredictor of functionHeritability
2021
Correction to: Multi-ethnic genome-wide association analyses of white blood cell and platelet traits in the Population Architecture using Genomics and Epidemiology (PAGE) Study
Hu Y, Bien S, Nishimura K, Haessler J, Hodonsky C, Baldassari A, Highland H, Wang Z, Preuss M, Sitlani C, Wojcik G, Tao R, Graff M, Huckins L, Sun Q, Chen M, Mousas A, Auer P, Lettre G, Tang W, Qi L, Thyagarajan B, Buyske S, Fornage M, Hindorff L, Li Y, Lin D, Reiner A, North K, Loos R, Raffield L, Peters U, Avery C, Kooperberg C. Correction to: Multi-ethnic genome-wide association analyses of white blood cell and platelet traits in the Population Architecture using Genomics and Epidemiology (PAGE) Study. BMC Genomics 2021, 22: 656. PMID: 34517814, PMCID: PMC8436530, DOI: 10.1186/s12864-021-07919-1.Peer-Reviewed Original Research
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