Seyedeh Maryam Zekavat
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Biography
Maryam graduated from Massachusetts Institute of Technology with a B.S. in Biological Engineering. During her undergraduate experience one of her key experiences was traveling to Switzerland and engaging in research at Roche where she developed a mathematical model of cholesterol dynamics in the outer retina to understand the pathogenesis of dry age-related macular degeneration, a blinding disease.
After graduation, Maryam worked at the Broad Institute of MIT and Harvard in the Kathiresan Lab as a Computational Biologist. Her key research contribution during this period was performing the first comprehensive deep whole-genome sequencing analyses on 1) conventional blood lipids, 2) lipoprotein(a), and 3) early-onset myocardial infarction. She also engaged in whole exome sequencing analyses, using rare variant burden analyses to discover new genes associated with myocardial infarction.
Maryam is currently an MD/PhD student at Yale, pursuing an MD and a PhD in Computational Biology & Bioinformatics, co-mentored by Hongyu Zhao and Pradeep Natarajan. Her research combines germline and somatic genomics with deep phenotyping to discover and understand the causal factors of disease.
Education & Training
- BSc
- Massachusetts Institute of Technology, Biological Engineering (2015)
Research
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Overview
Please see full list of publications here:
https://orcid.org/0000-0003-4026-8944
Medical Research Interests
ORCID
0000-0003-4026-8944
Research at a Glance
Yale Co-Authors
Publications Timeline
Hongyu Zhao, PhD
Renato Polimanti, PhD, MSc
Joel Gelernter, MD
Nallakkandi Rajeevan, PhD
Nicola Hawley, PhD
David Glahn, PhD
Publications
2024
A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels
de Vries P, Reventun P, Brown M, Heath A, Huffman J, Le N, Bebo A, Brody J, Temprano-Sagrera G, Raffield L, Ozel A, Thibord F, Jain D, Lewis J, Rodriguez B, Pankratz N, Taylor K, Polasek O, Chen M, Yanek L, Carrasquilla G, Marioni R, Kleber M, Trégouët D, Yao J, Li-Gao R, Joshi P, Trompet S, Martinez-Perez A, Ghanbari M, Howard T, Reiner A, Arvanitis M, Ryan K, Bartz T, Rudan I, Faraday N, Linneberg A, Ekunwe L, Davies G, Delgado G, Suchon P, Guo X, Rosendaal F, Klaric L, Noordam R, van Rooij F, Curran J, Wheeler M, Osburn W, O'Connell J, Boerwinkle E, Beswick A, Psaty B, Kolcic I, Souto J, Becker L, Hansen T, Doyle M, Harris S, Moissl A, Deleuze J, Rich S, van Hylckama Vlieg A, Campbell H, Stott D, Soria J, de Maat M, Almasy L, Brody L, Auer P, Mitchell B, Ben-Shlomo Y, Fornage M, Hayward C, Mathias R, Kilpeläinen T, Lange C, Cox S, März W, Morange P, Rotter J, Mook-Kanamori D, Wilson C, van der Harst P, Jukema J, Ikram M, Blangero J, Kooperberg C, Desch K, Johnson A, Sabater-Lleal M, Lowenstein C, Smith A, Morrison A, Abe N, Abecasis G, Aguet F, Albert C, Almasy L, Alonso A, Ament S, Anderson P, Anugu P, Applebaum-Bowden D, Ardlie K, Arking D, Arnett D, Ashley-Koch A, Aslibekyan S, Assimes T, Auer P, Avramopoulos D, Ayas N, Balasubramanian A, Barnard J, Barnes K, Barr R, Barron-Casella E, Barwick L, Beaty T, Beck G, Becker D, Becker L, Beer R, Beitelshees A, Benjamin E, Benos T, Bezerra M, Bielak L, Bis J, Blackwell T, Blangero J, Blue N, Boerwinkle E, Bowden D, Bowler R, Brody J, Broeckel U, Broome J, Brown D, Bunting K, Burchard E, Bustamante C, Buth E, Cade B, Cardwell J, Carey V, Carrier J, Carson A, Carty C, Casaburi R, Romero J, Casella J, Castaldi P, Chaffin M, Chang C, Chang Y, Chasman D, Chavan S, Chen B, Chen W, Chen Y, Cho M, Choi S, Chuang L, Chung M, Chung R, Clish C, Comhair S, Conomos M, Cornell E, Correa A, Crandall C, Crapo J, Cupples L, Curran J, Curtis J, Custer B, Damcott C, Darbar D, David S, Davis C, Daya M, de Andrade M, de las Fuentes L, de Vries P, DeBaun M, Deka R, DeMeo D, Devine S, Dinh H, Doddapaneni H, Duan Q, Dugan-Perez S, Duggirala R, Durda J, Dutcher S, Eaton C, Ekunwe L, Boueiz A, Ellinor P, Emery L, Erzurum S, Farber C, Farek J, Fingerlin T, Flickinger M, Fornage M, Franceschini N, Frazar C, Fu M, Fullerton S, Fulton L, Gabriel S, Gan W, Gao S, Gao Y, Gass M, Geiger H, Gelb B, Geraci M, Germer S, Gerszten R, Ghosh A, Gibbs R, Gignoux C, Gladwin M, Glahn D, Gogarten S, Gong D, Goring H, Graw S, Gray K, Grine D, Gross C, Gu C, Guan Y, Guo X, Gupta N, Haessler J, Hall M, Han Y, Hanly P, Harris D, Hawley N, He J, Heavner B, Heckbert S, Hernandez R, Herrington D, Hersh C, Hidalgo B, Hixson J, Hobbs B, Hokanson J, Hong E, Hoth K, Hsiung C, Hu J, Hung Y, Huston H, Hwu C, Irvin M, Jackson R, Jain D, Jaquish C, Johnsen J, Johnson C, Johnson A, Johnston R, Jones K, Kang H, Kaplan R, Kardia S, Kelly S, Kenny E, Kessler M, Khan A, Khan Z, Kim W, Kimoff J, Kinney G, Konkle B, Kooperberg C, Kramer H, Lange E, Lange L, Lange L, Laurie C, Laurie C, LeBoff M, Lee J, Lee S, Lee W, LeFaive J, Levine D, Levy D, Lewis J, Li X, Li Y, Lin H, Lin H, Lin X, Liu S, Liu Y, Liu Y, Loos R, Lubitz S, Lunetta K, Luo J, Magalang U, Mahaney M, Make B, Manichaikul A, Manning A, Manson J, Martin L, Marton M, Mathai S, Mathias R, May S, McArdle P, McDonald M, McFarland S, McGarvey S, McGoldrick D, McHugh C, McNeil B, Mei H, Meigs J, Menon V, Mestroni L, Metcalf G, Meyers D, Mignot E, Mikulla J, Min N, Minear M, Minster R, Mitchell B, Moll M, Momin Z, Montasser M, Montgomery C, Muzny D, Mychaleckyj J, Nadkarni G, Naik R, Naseri T, Natarajan P, Nekhai S, Nelson S, Neltner B, Nessner C, Nickerson D, Nkechinyere O, North K, O'Connell J, O'Connor T, Ochs-Balcom H, Okwuonu G, Pack A, Paik D, Palmer N, Pankow J, Papanicolaou G, Parker C, Peloso G, Peralta J, Perez M, Perry J, Peters U, Peyser P, Phillips L, Pleiness J, Pollin T, Post W, Becker J, Boorgula M, Preuss M, Psaty B, Qasba P, Qiao D, Qin Z, Rafaels N, Raffield L, Rajendran M, Ramachandran V, Rao D, Rasmussen-Torvik L, Ratan A, Redline S, Reed R, Reeves C, Regan E, Reiner A, Reupena M, Rice K, Rich S, Robillard R, Robine N, Roden D, Roselli C, Rotter J, Ruczinski I, Runnels A, Russell P, Ruuska S, Ryan K, Sabino E, Saleheen D, Salimi S, Salvi S, Salzberg S, Sandow K, Sankaran V, Santibanez J, Schwander K, Schwartz D, Sciurba F, Seidman C, Seidman J, Sériès F, Sheehan V, Sherman S, Shetty A, Shetty A, Sheu W, Shoemaker M, Silver B, Silverman E, Skomro R, Smith J, Smith J, Smith N, Smith T, Smith E, Smoller S, Snively B, Snyder M, Sofer T, Sotoodehnia N, Stilp A, Storm G, Streeten E, Su J, Sung Y, Sylvia J, Szpiro A, Taliun D, Tang H, Taub M, Taylor K, Taylor M, Taylor S, Telen M, Thornton T, Threlkeld M, Tinker L, Tirschwell D, Tishkoff S, Tiwari H, Tong C, Tracy R, Tsai M, Vaidya D, Van Den Berg D, VandeHaar P, Vrieze S, Walker T, Wallace R, Walts A, Wang F, Wang H, Wang J, Watson K, Watt J, Weeks D, Weinstock J, Weir B, Weiss S, Weng L, Wessel J, Willer C, Williams K, Williams L, Wilson J, Wilson J, Winterkorn L, Wong Q, Wu J, Xu H, Yanek L, Yang I, Yu K, Zekavat S, Zhang Y, Zhao S, Zhao W, Zhu X, Ziv E, Zody M, Zoellner S, Lindstrom S, Wang L, Smith N, Gordon W, van Hylckama Vlieg A, de Andrade M, Brody J, Pattee J, Haessler J, Brumpton B, Chasman D, Suchon P, Chen M, Turman C, Germain M, Wiggins K, MacDonald J, Braekkan S, Armasu S, Pankratz N, Jackson R, Nielsen J, Giulianini F, Puurunen M, Ibrahim M, Heckbert S, Bammler T, Frazer K, McCauley B, Taylor K, Pankow J, Reiner A, Gabrielsen M, Deleuze J, O'Donnell C, Kim J, McKnight B, Kraft P, Hansen J, Rosendaal F, Heit J, Psaty B, Tang W, Kooperberg C, Hveem K, Ridker P, Morange P, Johnson A, Kabrhel C, AlexandreTrégouët D, Smith N. A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels. Blood 2024, 143: 1845-1855. PMID: 38320121, PMCID: PMC11443575, DOI: 10.1182/blood.2023021452.Peer-Reviewed Original ResearchCitationsAltmetricConceptsMendelian randomizationGene-based aggregation testingImputation of genotypesGene-based analysisMulti-phenotype analysisAssociations of factor VIIIGenetic association studiesHuman umbilical vein endothelial cellsCausal genesTrans-OmicsAssociation studiesB3GNT2Genetic associationVon Willebrand factorProtein von Willebrand factorLociIdentified associationsPDIA3Umbilical vein endothelial cellsIncreased riskMeta-analysisCarrier protein von Willebrand factorVein endothelial cellsPrecision medicineEndothelial cellsPhenome- and genome-wide analyses of retinal optical coherence tomography images identify links between ocular and systemic health
Zekavat S, Jorshery S, Rauscher F, Horn K, Sekimitsu S, Koyama S, Nguyen T, Costanzo M, Jang D, Burtt N, Kühnapfel A, Shweikh Y, Ye Y, Raghu V, Zhao H, Ghassemi M, Elze T, Segrè A, Wiggs J, Del Priore L, Scholz M, Wang J, Natarajan P, Zebardast N. Phenome- and genome-wide analyses of retinal optical coherence tomography images identify links between ocular and systemic health. Science Translational Medicine 2024, 16: eadg4517. PMID: 38266105, DOI: 10.1126/scitranslmed.adg4517.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsGenome-wide association studiesRetinal layer thicknessPhotoreceptor segmentsOptical coherence tomographyRetinal layersUK Biobank participantsLIFE-Adult-StudyInherited genetic lociGenome-wide associationGanglion cell complex layerRetinal optical coherence tomography imagesRetinal nerve fiber layerAge-related macular degenerationBiobank participantsEye careNerve fiber layerOptical coherence tomography imagesIncident mortalityMacular OCT imagesLIFE-AdultIndependent associationsAssociation studiesSystemic healthGenetic associationGenome-wide analysis
2022
A MUC5B Gene Polymorphism, rs35705950-T, Confers Protective Effects Against COVID-19 Hospitalization but Not Severe Disease or Mortality
Verma A, Minnier J, Wan ES, Huffman JE, Gao L, Joseph J, Ho YL, Wu WC, Cho K, Gorman BR, Rajeevan N, Pyarajan S, Garcon H, Meigs JB, Sun YV, Reaven PD, McGeary JE, Suzuki A, Gelernter J, Lynch JA, Petersen JM, Zekavat SM, Natarajan P, Dalal S, Jhala DN, Arjomandi M, Gatsby E, Lynch KE, Bonomo RA, Freiberg M, Pathak GA, Zhou JJ, Donskey CJ, Madduri RK, Wells QS, Huang R, Polimanti R, Chang KM, Liao KP, Tsao PS, Wilson PWF, Hung A, O’Donnell C, Gaziano JM, Hauger RL, Iyengar S, Luoh SW, Initiative T. A MUC5B Gene Polymorphism, rs35705950-T, Confers Protective Effects Against COVID-19 Hospitalization but Not Severe Disease or Mortality. American Journal Of Respiratory And Critical Care Medicine 2022, 206: 1220-1229. PMID: 35771531, PMCID: PMC9746845, DOI: 10.1164/rccm.202109-2166oc.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsCOVID-19 hospitalizationIdiopathic pulmonary fibrosisMillion Veteran ProgramHost Genetics InitiativeAcute respiratory syndrome coronavirus 2 infectionSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infectionGene polymorphismsSyndrome coronavirus 2 infectionCoronavirus 2 infectionConfer protective effectsCOVID-19 positivityCoronavirus disease (COVID-19) infectionElectronic health recordsMVP subjectsPneumonia eventsClinical outcomesPulmonary fibrosisCOVID-19 Host Genetics InitiativeClinical eventsSevere outcomesProtective effectSevere diseaseRs35705950Disease severityMVP participantsAssociation of Kidney Comorbidities and Acute Kidney Failure With Unfavorable Outcomes After COVID-19 in Individuals With the Sickle Cell Trait
Verma A, Huffman JE, Gao L, Minnier J, Wu WC, Cho K, Ho YL, Gorman BR, Pyarajan S, Rajeevan N, Garcon H, Joseph J, McGeary JE, Suzuki A, Reaven PD, Wan ES, Lynch JA, Petersen JM, Meigs JB, Freiberg MS, Gatsby E, Lynch KE, Zekavat SM, Natarajan P, Dalal S, Jhala DN, Arjomandi M, Bonomo RA, Thompson TK, Pathak GA, Zhou JJ, Donskey CJ, Madduri RK, Wells QS, Gelernter J, Huang RDL, Polimanti R, Chang KM, Liao KP, Tsao PS, Sun YV, Wilson PWF, O’Donnell C, Hung AM, Gaziano JM, Hauger RL, Iyengar SK, Luoh SW, Muralidhar S, Beckham J, Moser J, Thomann L, Garcon H, Kosik N, Damrauer S, Assimes T, Roussos P, Striker R, Tuteja S, DuVall S, Lynch K, Gatsby E, Ramoni R, Breeling J, Huang G, Whitbourne S, Brewer J, Aslan M, Connor T, Argyres D, Stephens B, Brophy M, Humphries D, Selva L, Do N, Shayan S, Churby L, Hauser E, Zhao H, Wilson P, McArdle R, Dellitalia L, Mattocks K, Harley J, Whittle J, Jacono F, Wells J, Gutierrez S, Gibson G, Hammer K, Kaminsky L, Villareal G, Kinlay S, Xu J, Hamner M, Mathew R, Bhushan S, Iruvanti P, Godschalk M, Ballas Z, Ivins D, Mastorides S, Moorman J, Gappy S, Klein J, Ratcliffe N, Florez H, Okusaga O, Murdoch M, Sriram P, Yeh S, Tandon N, Jhala D, Aguayo S, Cohen D, Sharma S, Liangpunsakul S, Oursler K, Whooley M, Ahuja S, Constans J, Meyer P, Greco J, Rauchman M, Servatius R, Gaddy M, Wallbom A, Morgan T, Stapley T, Sherman S, Ross G, Tsao P, Strollo P, Boyko E, Meyer L, Gupta S, Huq M, Fayad J, Hung A, Lichy J, Hurley R, Robey B. Association of Kidney Comorbidities and Acute Kidney Failure With Unfavorable Outcomes After COVID-19 in Individuals With the Sickle Cell Trait. JAMA Internal Medicine 2022, 182: 796-804. PMID: 35759254, PMCID: PMC9237798, DOI: 10.1001/jamainternmed.2022.2141.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsAcute kidney failureSickle cell traitAssociation of SCTCOVID-19 outcomesCOVID-19 mortalityKidney diseaseKidney failureCell traitMillion Veteran ProgramCOVID-19Chronic kidney diseaseDiabetic kidney diseaseHypertensive kidney diseaseElectronic health recordsIndex dateAfrican ancestryPulmonary embolismClinical outcomesCerebrovascular diseaseMean ageUnfavorable outcomeClinical dataDiseases codesKidney morbidityMAIN OUTCOMEA Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program
Verma A, Tsao NL, Thomann LO, Ho YL, Iyengar SK, Luoh SW, Carr R, Crawford DC, Efird JT, Huffman JE, Hung A, Ivey KL, Levin MG, Lynch J, Natarajan P, Pyarajan S, Bick AG, Costa L, Genovese G, Hauger R, Madduri R, Pathak GA, Polimanti R, Voight B, Vujkovic M, Zekavat SM, Zhao H, Ritchie MD, Initiative V, Chang KM, Cho K, Casas JP, Tsao PS, Gaziano JM, O’Donnell C, Damrauer SM, Liao KP. A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program. PLOS Genetics 2022, 18: e1010113. PMID: 35482673, PMCID: PMC9049369, DOI: 10.1371/journal.pgen.1010113.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsSevere COVID-19Million Veteran ProgramPhenome-wide association studyHost Genetics InitiativeGenetic architectureGenotype-phenotype dataAssociation studiesVeterans Affairs Million Veteran ProgramElectronic health record dataCOVID-19 severityHealth record dataCOVID-19Genetic variantsGenetics InitiativeABO locusPhenotypeVenous embolismCritical illnessDiseases codesMedical conditionsInternational ClassificationRecord dataStrong associationVeteran ProgramVariantsMendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential
Nakao T, Bick AG, Taub MA, Zekavat SM, Uddin M, Niroula A, Carty CL, Lane J, Honigberg MC, Weinstock JS, Pampana A, Gibson CJ, Griffin GK, Clarke SL, Bhattacharya R, Assimes TL, Emery LS, Stilp AM, Wong Q, Broome J, Laurie CA, Khan AT, Smith AV, Blackwell TW, Codd V, Nelson CP, Yoneda ZT, Peralta JM, Bowden DW, Irvin MR, Boorgula M, Zhao W, Yanek LR, Wiggins KL, Hixson JE, Gu CC, Peloso GM, Roden DM, Reupena M, Hwu CM, DeMeo DL, North KE, Kelly S, Musani SK, Bis JC, Lloyd-Jones DM, Johnsen JM, Preuss M, Tracy RP, Peyser PA, Qiao D, Desai P, Curran JE, Freedman BI, Tiwari HK, Chavan S, Smith JA, Smith NL, Kelly TN, Hidalgo B, Cupples LA, Weeks DE, Hawley NL, Minster RL, Obesity L, Deka R, Naseri TT, de las Fuentes L, Raffield LM, Morrison AC, Vries PS, Ballantyne CM, Kenny EE, Rich SS, Whitsel EA, Cho MH, Shoemaker MB, Pace BS, Blangero J, Palmer ND, Mitchell BD, Shuldiner AR, Barnes KC, Redline S, Kardia SLR, Abecasis GR, Becker LC, Heckbert SR, He J, Post W, Arnett DK, Vasan RS, Darbar D, Weiss ST, McGarvey ST, de Andrade M, Chen YI, Kaplan RC, Meyers DA, Custer BS, Correa A, Psaty BM, Fornage M, Manson JE, Boerwinkle E, Konkle BA, Loos RJF, Rotter JI, Silverman EK, Kooperberg C, Danesh J, Samani NJ, Jaiswal S, Libby P, Ellinor PT, Pankratz N, Ebert BL, Reiner AP, Mathias RA, Do R, Consortium N, Natarajan P. Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential. Science Advances 2022, 8: eabl6579. PMID: 35385311, PMCID: PMC8986098, DOI: 10.1126/sciadv.abl6579.Peer-Reviewed Original ResearchCitationsAltmetric
2021
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection
Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Wang C, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Bhattacharya R, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Kiryluk K, Neale B, Ionita-Laza I, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ, Terao C, Zhao H, Ebert B, Reilly M, Ganna A, Machiela M, Genovese G, Natarajan P. Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection. Nature Medicine 2021, 27: 1012-1024. PMID: 34099924, PMCID: PMC8245201, DOI: 10.1038/s41591-021-01371-0.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsMeSH KeywordsAdolescentAdultAgedAged, 80 and overAgingBiological Specimen BanksChromosome AberrationsCommunicable DiseasesDigestive System DiseasesFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHematologic NeoplasmsHumansMaleMiddle AgedMosaicismPneumoniaRisk FactorsSepsisUrogenital AbnormalitiesYoung AdultConceptsMosaic chromosomal alterationsLeukocyte cell countDominant risk factorChromosomal alterationsBlood-derived DNAInfectious disease riskIncident infectionsSystem infectionGenitourinary infectionsImmune cellsRisk factorsHematological malignanciesHematological cancersCell countDisease riskInfectionInfectious diseasesClonal hematopoiesisSomatic variantsAgeRiskAlterationsWide association studyAutosomal mosaic chromosomal alterationsAssociation studiesAuthor Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes
Bick AG, Weinstock JS, Nandakumar SK, Fulco CP, Bao EL, Zekavat SM, Szeto MD, Liao X, Leventhal MJ, Nasser J, Chang K, Laurie C, Burugula BB, Gibson CJ, Niroula A, Lin AE, Taub MA, Aguet F, Ardlie K, Mitchell BD, Barnes KC, Moscati A, Fornage M, Redline S, Psaty BM, Silverman EK, Weiss ST, Palmer ND, Vasan RS, Burchard EG, Kardia SLR, He J, Kaplan RC, Smith NL, Arnett DK, Schwartz DA, Correa A, de Andrade M, Guo X, Konkle BA, Custer B, Peralta JM, Gui H, Meyers DA, McGarvey ST, Chen IY, Shoemaker MB, Peyser PA, Broome JG, Gogarten SM, Wang FF, Wong Q, Montasser ME, Daya M, Kenny EE, North KE, Launer LJ, Cade BE, Bis JC, Cho MH, Lasky-Su J, Bowden DW, Cupples LA, Mak ACY, Becker LC, Smith JA, Kelly TN, Aslibekyan S, Heckbert SR, Tiwari HK, Yang IV, Heit JA, Lubitz SA, Johnsen JM, Curran JE, Wenzel SE, Weeks DE, Rao DC, Darbar D, Moon JY, Tracy RP, Buth EJ, Rafaels N, Loos RJF, Durda P, Liu Y, Hou L, Lee J, Kachroo P, Freedman BI, Levy D, Bielak LF, Hixson JE, Floyd JS, Whitsel EA, Ellinor PT, Irvin MR, Fingerlin TE, Raffield LM, Armasu SM, Wheeler MM, Sabino EC, Blangero J, Williams LK, Levy BD, Sheu WH, Roden DM, Boerwinkle E, Manson JE, Mathias RA, Desai P, Taylor KD, Johnson AD, Auer P, Kooperberg C, Laurie C, Blackwell T, Smith A, Zhao H, Lange E, Lange L, Rich S, Rotter J, Wilson J, Scheet P, Kitzman J, Lander E, Engreitz J, Ebert B, Reiner A, Jaiswal S, Abecasis G, Sankaran V, Kathiresan S, Natarajan P. Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature 2021, 591: e27-e27. PMID: 33707633, DOI: 10.1038/s41586-021-03280-1.Peer-Reviewed Original ResearchCitationsAltmetric
2019
A statistical framework for cross-tissue transcriptome-wide association analysis
Hu Y, Li M, Lu Q, Weng H, Wang J, Zekavat SM, Yu Z, Li B, Gu J, Muchnik S, Shi Y, Kunkle BW, Mukherjee S, Natarajan P, Naj A, Kuzma A, Zhao Y, Crane PK, Lu H, Zhao H. A statistical framework for cross-tissue transcriptome-wide association analysis. Nature Genetics 2019, 51: 568-576. PMID: 30804563, PMCID: PMC6788740, DOI: 10.1038/s41588-019-0345-7.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsTranscriptome-wide association analysisAssociation analysisGene-trait associationsGene expression dataGene expression levelsGenetic architectureComplex traitsMore genesGene expressionSingle tissueExpression dataAssociation resultsExpression levelsPowerful approachImputation modelHuman tissuesImputation accuracyGenotypesStatistical frameworkTissueGenesKey componentTraitsPowerful metricExpression
2018
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease
Emdin CA, Khera AV, Chaffin M, Klarin D, Natarajan P, Aragam K, Haas M, Bick A, Zekavat SM, Nomura A, Ardissino D, Wilson JG, Schunkert H, McPherson R, Watkins H, Elosua R, Bown MJ, Samani NJ, Baber U, Erdmann J, Gupta N, Danesh J, Chasman D, Ridker P, Denny J, Bastarache L, Lichtman JH, D’Onofrio G, Mattera J, Spertus JA, Sheu W, Taylor KD, Psaty BM, Rich SS, Post W, Rotter JI, Chen YI, Krumholz H, Saleheen D, Gabriel S, Kathiresan S. Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease. Nature Communications 2018, 9: 1613. PMID: 29691411, PMCID: PMC5915445, DOI: 10.1038/s41467-018-03911-8.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsPLOF variantsProtein-coding genetic variantsFunction variantsCoronary artery diseaseBody fat distributionType 2 diabetesEssential splice siteProtein functionEffector transcriptsUK Biobank participantsIdentifies variantsStop codonMetabolic traitsArtery diseaseSplice siteAllergic diseasesAssociation analysisCardiometabolic diseasesAdditional diseaseFat distributionGenetic variantsBiobank participantsDiseaseBiological effectsVariants