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Items: 1 to 50 of 68

1.

Genetic analyses of diverse populations improves discovery for complex traits.

Wojcik GL, Graff M, Nishimura KK, Tao R, Haessler J, Gignoux CR, Highland HM, Patel YM, Sorokin EP, Avery CL, Belbin GM, Bien SA, Cheng I, Cullina S, Hodonsky CJ, Hu Y, Huckins LM, Jeff J, Justice AE, Kocarnik JM, Lim U, Lin BM, Lu Y, Nelson SC, Park SL, Poisner H, Preuss MH, Richard MA, Schurmann C, Setiawan VW, Sockell A, Vahi K, Verbanck M, Vishnu A, Walker RW, Young KL, Zubair N, Acuña-Alonso V, Ambite JL, Barnes KC, Boerwinkle E, Bottinger EP, Bustamante CD, Caberto C, Canizales-Quinteros S, Conomos MP, Deelman E, Do R, Doheny K, Fernández-Rhodes L, Fornage M, Hailu B, Heiss G, Henn BM, Hindorff LA, Jackson RD, Laurie CA, Laurie CC, Li Y, Lin DY, Moreno-Estrada A, Nadkarni G, Norman PJ, Pooler LC, Reiner AP, Romm J, Sabatti C, Sandoval K, Sheng X, Stahl EA, Stram DO, Thornton TA, Wassel CL, Wilkens LR, Winkler CA, Yoneyama S, Buyske S, Haiman CA, Kooperberg C, Le Marchand L, Loos RJF, Matise TC, North KE, Peters U, Kenny EE, Carlson CS.

Nature. 2019 Jun 19. doi: 10.1038/s41586-019-1310-4. [Epub ahead of print]

PMID:
31217584
2.

The role of country of birth, and genetic and self-identified ancestry, in obesity susceptibility among African and Hispanic Americans.

Vishnu A, Belbin GM, Wojcik GL, Bottinger EP, Gignoux CR, Kenny EE, Loos RJF.

Am J Clin Nutr. 2019 Jun 4. pii: nqz098. doi: 10.1093/ajcn/nqz098. [Epub ahead of print]

PMID:
31161206
3.

The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.

Horowitz CR, Orlando LA, Slavotinek AM, Peterson J, Angelo F, Biesecker B, Bonham VL, Cameron LD, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hindorff LA, Jarvik GP, Kaufman D, Kenny EE, Knight SJ, Koenig BA, Korf BR, Madden E, McGuire AL, Ou J, Wasserstein MP, Robinson M, Leventhal H, Sanderson SC.

Am J Hum Genet. 2019 Jun 6;104(6):1088-1096. doi: 10.1016/j.ajhg.2019.04.006. Epub 2019 May 16.

PMID:
31104772
4.

The Future of Genomic Studies Must Be Globally Representative: Perspectives from PAGE.

Bien SA, Wojcik GL, Hodonsky CJ, Gignoux CR, Cheng I, Matise TC, Peters U, Kenny EE, North KE.

Annu Rev Genomics Hum Genet. 2019 Apr 12. doi: 10.1146/annurev-genom-091416-035517. [Epub ahead of print]

PMID:
30978304
5.

Personalized Medicine and the Power of Electronic Health Records.

Abul-Husn NS, Kenny EE.

Cell. 2019 Mar 21;177(1):58-69. doi: 10.1016/j.cell.2019.02.039. Review.

PMID:
30901549
6.

Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations.

Daya M, Rafaels N, Brunetti TM, Chavan S, Levin AM, Shetty A, Gignoux CR, Boorgula MP, Wojcik G, Campbell M, Vergara C, Torgerson DG, Ortega VE, Doumatey A, Johnston HR, Acevedo N, Araujo MI, Avila PC, Belbin G, Bleecker E, Bustamante C, Caraballo L, Cruz A, Dunston GM, Eng C, Faruque MU, Ferguson TS, Figueiredo C, Ford JG, Gan W, Gourraud PA, Hansel NN, Hernandez RD, Herrera-Paz EF, Jiménez S, Kenny EE, Knight-Madden J, Kumar R, Lange LA, Lange EM, Lizee A, Maul P, Maul T, Mayorga A, Meyers D, Nicolae DL, O'Connor TD, Oliveira RR, Olopade CO, Olopade O, Qin ZS, Rotimi C, Vince N, Watson H, Wilks RJ, Wilson JG, Salzberg S, Ober C, Burchard EG, Williams LK, Beaty TH, Taub MA, Ruczinski I, Mathias RA, Barnes KC; CAAPA.

Nat Commun. 2019 Feb 20;10(1):880. doi: 10.1038/s41467-019-08469-7.

7.

Worldwide Frequencies of APOL1 Renal Risk Variants.

Nadkarni GN, Gignoux CR, Sorokin EP, Daya M, Rahman R, Barnes KC, Wassel CL, Kenny EE.

N Engl J Med. 2018 Dec 27;379(26):2571-2572. doi: 10.1056/NEJMc1800748. No abstract available.

8.

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.

Bonnemaijer PWM, Iglesias AI, Nadkarni GN, Sanyiwa AJ, Hassan HG, Cook C; GIGA Study Group, Simcoe M, Taylor KD, Schurmann C, Belbin GM, Kenny EE, Bottinger EP, van de Laar S, Wiliams SEI, Akafo SK, Ashaye AO, Zangwill LM, Girkin CA, Ng MCY, Rotter JI, Weinreb RN, Li Z, Allingham RR; Eyes of Africa Genetics Consortium, Nag A, Hysi PG, Meester-Smoor MA, Wiggs JL; NEIGHBORHOOD Consortium, Hauser MA, Hammond CJ, Lemij HG, Loos RJF, van Duijn CM, Thiadens AAHJ, Klaver CCW.

Hum Genet. 2018 Oct;137(10):847-862. doi: 10.1007/s00439-018-1943-7. Epub 2018 Oct 13.

PMID:
30317457
9.

Rare loss of function variants in candidate genes and risk of colorectal cancer.

Rosenthal EA, Shirts BH, Amendola LM, Horike-Pyne M, Robertson PD, Hisama FM, Bennett RL, Dorschner MO, Nickerson DA, Stanaway IB, Nassir R, Vickers KT, Li C, Grady WM, Peters U, Jarvik GP; NHLBI GO Exome Sequencing Project.

Hum Genet. 2018 Oct;137(10):795-806. doi: 10.1007/s00439-018-1938-4. Epub 2018 Sep 28.

PMID:
30267214
10.

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.

Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA; CSER consortium, Plon SE, Jarvik GP.

Am J Hum Genet. 2018 Sep 6;103(3):319-327. doi: 10.1016/j.ajhg.2018.08.007.

11.

Imputation-Aware Tag SNP Selection To Improve Power for Large-Scale, Multi-ethnic Association Studies.

Wojcik GL, Fuchsberger C, Taliun D, Welch R, Martin AR, Shringarpure S, Carlson CS, Abecasis G, Kang HM, Boehnke M, Bustamante CD, Gignoux CR, Kenny EE.

G3 (Bethesda). 2018 Oct 3;8(10):3255-3267. doi: 10.1534/g3.118.200502.

12.

Genetic diversity in populations across Latin America: implications for population and medical genetic studies.

Belbin GM, Nieves-Colón MA, Kenny EE, Moreno-Estrada A, Gignoux CR.

Curr Opin Genet Dev. 2018 Dec;53:98-104. doi: 10.1016/j.gde.2018.07.006. Epub 2018 Aug 17. Review.

PMID:
30125792
13.

Peripheral hemophagocytosis: A rapid clue to severe sepsis and hemophagocytic lymphohistiocytosis.

Lee AC, Ee K, Tan N.

Pediatr Neonatol. 2019 Feb;60(1):108-109. doi: 10.1016/j.pedneo.2018.05.004. Epub 2018 May 25. No abstract available.

14.

Disease Heritability Inferred from Familial Relationships Reported in Medical Records.

Polubriaginof FCG, Vanguri R, Quinnies K, Belbin GM, Yahi A, Salmasian H, Lorberbaum T, Nwankwo V, Li L, Shervey MM, Glowe P, Ionita-Laza I, Simmerling M, Hripcsak G, Bakken S, Goldstein D, Kiryluk K, Kenny EE, Dudley J, Vawdrey DK, Tatonetti NP.

Cell. 2018 Jun 14;173(7):1692-1704.e11. doi: 10.1016/j.cell.2018.04.032. Epub 2018 May 17.

15.

Population structure in Argentina.

Muzzio M, Motti JMB, Paz Sepulveda PB, Yee MC, Cooke T, Santos MR, Ramallo V, Alfaro EL, Dipierri JE, Bailliet G, Bravi CM, Bustamante CD, Kenny EE.

PLoS One. 2018 May 1;13(5):e0196325. doi: 10.1371/journal.pone.0196325. eCollection 2018.

16.

Institutional profile: translational pharmacogenomics at the Icahn School of Medicine at Mount Sinai.

Scott SA, Owusu Obeng A, Botton MR, Yang Y, Scott ER, Ellis SB, Wallsten R, Kaszemacher T, Zhou X, Chen R, Nicoletti P, Naik H, Kenny EE, Vega A, Waite E, Diaz GA, Dudley J, Halperin JL, Edelmann L, Kasarskis A, Hulot JS, Peter I, Bottinger EP, Hirschhorn K, Sklar P, Cho JH, Desnick RJ, Schadt EE.

Pharmacogenomics. 2017 Oct;18(15):1381-1386. doi: 10.2217/pgs-2017-0137. Epub 2017 Oct 6. Review.

17.

Erratum to: A multi-stage genome-wide association study of uterine fibroids in African Americans.

Hellwege JN, Jeff JM, Wise LA, Gallagher CS, Wellons M, Hartmann KE, Jones SF, Torstenson ES, Dickinson S, Ruiz-Narváez EA, Rohland N, Allen A, Reich D, Tandon A, Pasaniuc B, Mancuso N, Im HK, Hinds DA, Palmer JR, Rosenberg L, Denny JC, Roden DM, Stewart EA, Morton CC, Kenny EE, Edwards TL, Velez Edwards DR.

Hum Genet. 2017 Nov;136(11-12):1497-1498. doi: 10.1007/s00439-017-1846-z.

18.

Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.

Belbin GM, Odgis J, Sorokin EP, Yee MC, Kohli S, Glicksberg BS, Gignoux CR, Wojcik GL, Van Vleck T, Jeff JM, Linderman M, Schurmann C, Ruderfer D, Cai X, Merkelson A, Justice AE, Young KL, Graff M, North KE, Peters U, James R, Hindorff L, Kornreich R, Edelmann L, Gottesman O, Stahl EE, Cho JH, Loos RJ, Bottinger EP, Nadkarni GN, Abul-Husn NS, Kenny EE.

Elife. 2017 Sep 12;6. pii: e25060. doi: 10.7554/eLife.25060.

19.

A multi-stage genome-wide association study of uterine fibroids in African Americans.

Hellwege JN, Jeff JM, Wise LA, Gallagher CS, Wellons M, Hartmann KE, Jones SF, Torstenson ES, Dickinson S, Ruiz-Narváez EA, Rohland N, Allen A, Reich D, Tandon A, Pasaniuc B, Mancuso N, Im HK, Hinds DA, Palmer JR, Rosenberg L, Denny JC, Roden DM, Stewart EA, Morton CC, Kenny EE, Edwards TL, Velez Edwards DR.

Hum Genet. 2017 Oct;136(10):1363-1373. doi: 10.1007/s00439-017-1836-1. Epub 2017 Aug 23. Erratum in: Hum Genet. 2017 Oct 4;:.

20.

Identifying tagging SNPs for African specific genetic variation from the African Diaspora Genome.

Johnston HR, Hu YJ, Gao J, O'Connor TD, Abecasis GR, Wojcik GL, Gignoux CR, Gourraud PA, Lizee A, Hansen M, Genuario R, Bullis D, Lawley C, Kenny EE, Bustamante C, Beaty TH, Mathias RA, Barnes KC, Qin ZS; CAAPA Consortium.

Sci Rep. 2017 Apr 21;7:46398. doi: 10.1038/srep46398.

21.

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations.

Martin AR, Gignoux CR, Walters RK, Wojcik GL, Neale BM, Gravel S, Daly MJ, Bustamante CD, Kenny EE.

Am J Hum Genet. 2017 Apr 6;100(4):635-649. doi: 10.1016/j.ajhg.2017.03.004. Epub 2017 Mar 30.

22.

Apolipoprotein L1 Variants and Blood Pressure Traits in African Americans.

Nadkarni GN, Galarneau G, Ellis SB, Nadukuru R, Zhang J, Scott SA, Schurmann C, Li R, Rasmussen-Torvik LJ, Kho AN, Hayes MG, Pacheco JA, Manolio TA, Chisholm RL, Roden DM, Denny JC, Kenny EE, Bottinger EP.

J Am Coll Cardiol. 2017 Mar 28;69(12):1564-1574. doi: 10.1016/j.jacc.2017.01.040.

23.

iGAS: A framework for using electronic intraoperative medical records for genomic discovery.

Levin MA, Joseph TT, Jeff JM, Nadukuru R, Ellis SB, Bottinger EP, Kenny EE.

J Biomed Inform. 2017 Mar;67:80-89. doi: 10.1016/j.jbi.2017.02.005. Epub 2017 Feb 11.

24.

Strategies for Enriching Variant Coverage in Candidate Disease Loci on a Multiethnic Genotyping Array.

Bien SA, Wojcik GL, Zubair N, Gignoux CR, Martin AR, Kocarnik JM, Martin LW, Buyske S, Haessler J, Walker RW, Cheng I, Graff M, Xia L, Franceschini N, Matise T, James R, Hindorff L, Le Marchand L, North KE, Haiman CA, Peters U, Loos RJ, Kooperberg CL, Bustamante CD, Kenny EE, Carlson CS; PAGE Study.

PLoS One. 2016 Dec 14;11(12):e0167758. doi: 10.1371/journal.pone.0167758. eCollection 2016.

25.

A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome.

Mathias RA, Taub MA, Gignoux CR, Fu W, Musharoff S, O'Connor TD, Vergara C, Torgerson DG, Pino-Yanes M, Shringarpure SS, Huang L, Rafaels N, Boorgula MP, Johnston HR, Ortega VE, Levin AM, Song W, Torres R, Padhukasahasram B, Eng C, Mejia-Mejia DA, Ferguson T, Qin ZS, Scott AF, Yazdanbakhsh M, Wilson JG, Marrugo J, Lange LA, Kumar R, Avila PC, Williams LK, Watson H, Ware LB, Olopade C, Olopade O, Oliveira R, Ober C, Nicolae DL, Meyers D, Mayorga A, Knight-Madden J, Hartert T, Hansel NN, Foreman MG, Ford JG, Faruque MU, Dunston GM, Caraballo L, Burchard EG, Bleecker E, Araujo MI, Herrera-Paz EF, Gietzen K, Grus WE, Bamshad M, Bustamante CD, Kenny EE, Hernandez RD, Beaty TH, Ruczinski I, Akey J; CAAPA, Barnes KC.

Nat Commun. 2016 Oct 11;7:12522. doi: 10.1038/ncomms12522.

26.

Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry.

Kessler MD, Yerges-Armstrong L, Taub MA, Shetty AC, Maloney K, Jeng LJB, Ruczinski I, Levin AM, Williams LK, Beaty TH, Mathias RA, Barnes KC; Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA), O'Connor TD.

Nat Commun. 2016 Oct 11;7:12521. doi: 10.1038/ncomms12521.

27.

The Great Migration and African-American Genomic Diversity.

Baharian S, Barakatt M, Gignoux CR, Shringarpure S, Errington J, Blot WJ, Bustamante CD, Kenny EE, Williams SM, Aldrich MC, Gravel S.

PLoS Genet. 2016 May 27;12(5):e1006059. doi: 10.1371/journal.pgen.1006059. eCollection 2016 May.

28.

GBStools: A Statistical Method for Estimating Allelic Dropout in Reduced Representation Sequencing Data.

Cooke TF, Yee MC, Muzzio M, Sockell A, Bell R, Cornejo OE, Kelley JL, Bailliet G, Bravi CM, Bustamante CD, Kenny EE.

PLoS Genet. 2016 Feb 1;12(2):e1005631. doi: 10.1371/journal.pgen.1005631. eCollection 2016 Feb.

29.

A global reference for human genetic variation.

1000 Genomes Project Consortium, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR.

Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393.

30.

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores.

Vilhjálmsson BJ, Yang J, Finucane HK, Gusev A, Lindström S, Ripke S, Genovese G, Loh PR, Bhatia G, Do R, Hayeck T, Won HH; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) study, Kathiresan S, Pato M, Pato C, Tamimi R, Stahl E, Zaitlen N, Pasaniuc B, Belbin G, Kenny EE, Schierup MH, De Jager P, Patsopoulos NA, McCarroll S, Daly M, Purcell S, Chasman D, Neale B, Goddard M, Visscher PM, Kraft P, Patterson N, Price AL.

Am J Hum Genet. 2015 Oct 1;97(4):576-92. doi: 10.1016/j.ajhg.2015.09.001.

31.

Genome-wide association study of schizophrenia in Ashkenazi Jews.

Goes FS, McGrath J, Avramopoulos D, Wolyniec P, Pirooznia M, Ruczinski I, Nestadt G, Kenny EE, Vacic V, Peters I, Lencz T, Darvasi A, Mulle JG, Warren ST, Pulver AE.

Am J Med Genet B Neuropsychiatr Genet. 2015 Dec;168(8):649-59. doi: 10.1002/ajmg.b.32349. Epub 2015 Jul 21.

PMID:
26198764
32.

Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.

Auer PL, Nalls M, Meschia JF, Worrall BB, Longstreth WT Jr, Seshadri S, Kooperberg C, Burger KM, Carlson CS, Carty CL, Chen WM, Cupples LA, DeStefano AL, Fornage M, Hardy J, Hsu L, Jackson RD, Jarvik GP, Kim DS, Lakshminarayan K, Lange LA, Manichaikul A, Quinlan AR, Singleton AB, Thornton TA, Nickerson DA, Peters U, Rich SS; National Heart, Lung, and Blood Institute Exome Sequencing Project.

JAMA Neurol. 2015 Jul;72(7):781-8. doi: 10.1001/jamaneurol.2015.0582.

33.

Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel.

Delaneau O, Marchini J; 1000 Genomes Project Consortium; 1000 Genomes Project Consortium.

Nat Commun. 2014 Jun 13;5:3934. doi: 10.1038/ncomms4934.

34.

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.

Do R, Stitziel NO, Won HH, Jørgensen AB, Duga S, Angelica Merlini P, Kiezun A, Farrall M, Goel A, Zuk O, Guella I, Asselta R, Lange LA, Peloso GM, Auer PL; NHLBI Exome Sequencing Project, Girelli D, Martinelli N, Farlow DN, DePristo MA, Roberts R, Stewart AF, Saleheen D, Danesh J, Epstein SE, Sivapalaratnam S, Hovingh GK, Kastelein JJ, Samani NJ, Schunkert H, Erdmann J, Shah SH, Kraus WE, Davies R, Nikpay M, Johansen CT, Wang J, Hegele RA, Hechter E, Marz W, Kleber ME, Huang J, Johnson AD, Li M, Burke GL, Gross M, Liu Y, Assimes TL, Heiss G, Lange EM, Folsom AR, Taylor HA, Olivieri O, Hamsten A, Clarke R, Reilly DF, Yin W, Rivas MA, Donnelly P, Rossouw JE, Psaty BM, Herrington DM, Wilson JG, Rich SS, Bamshad MJ, Tracy RP, Cupples LA, Rader DJ, Reilly MP, Spertus JA, Cresci S, Hartiala J, Tang WH, Hazen SL, Allayee H, Reiner AP, Carlson CS, Kooperberg C, Jackson RD, Boerwinkle E, Lander ES, Schwartz SM, Siscovick DS, McPherson R, Tybjaerg-Hansen A, Abecasis GR, Watkins H, Nickerson DA, Ardissino D, Sunyaev SR, O'Donnell CJ, Altshuler D, Gabriel S, Kathiresan S.

Nature. 2015 Feb 5;518(7537):102-6. doi: 10.1038/nature13917. Epub 2014 Dec 10.

35.

Effect of Genetic African Ancestry on eGFR and Kidney Disease.

Udler MS, Nadkarni GN, Belbin G, Lotay V, Wyatt C, Gottesman O, Bottinger EP, Kenny EE, Peter I.

J Am Soc Nephrol. 2015 Jul;26(7):1682-92. doi: 10.1681/ASN.2014050474. Epub 2014 Oct 27.

36.

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

Tabor HK, Auer PL, Jamal SM, Chong JX, Yu JH, Gordon AS, Graubert TA, O'Donnell CJ, Rich SS, Nickerson DA; NHLBI Exome Sequencing Project, Bamshad MJ.

Am J Hum Genet. 2014 Aug 7;95(2):183-93. doi: 10.1016/j.ajhg.2014.07.006. Epub 2014 Jul 31.

37.

Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences.

Colonna V, Ayub Q, Chen Y, Pagani L, Luisi P, Pybus M, Garrison E, Xue Y, Tyler-Smith C; 1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA.

Genome Biol. 2014 Jun 30;15(6):R88. doi: 10.1186/gb-2014-15-6-r88.

38.

Human genetics. The genetics of Mexico recapitulates Native American substructure and affects biomedical traits.

Moreno-Estrada A, Gignoux CR, Fernández-López JC, Zakharia F, Sikora M, Contreras AV, Acuña-Alonzo V, Sandoval K, Eng C, Romero-Hidalgo S, Ortiz-Tello P, Robles V, Kenny EE, Nuño-Arana I, Barquera-Lozano R, Macín-Pérez G, Granados-Arriola J, Huntsman S, Galanter JM, Via M, Ford JG, Chapela R, Rodriguez-Cintron W, Rodríguez-Santana JR, Romieu I, Sienra-Monge JJ, del Rio Navarro B, London SJ, Ruiz-Linares A, Garcia-Herrera R, Estrada K, Hidalgo-Miranda A, Jimenez-Sanchez G, Carnevale A, Soberón X, Canizales-Quinteros S, Rangel-Villalobos H, Silva-Zolezzi I, Burchard EG, Bustamante CD.

Science. 2014 Jun 13;344(6189):1280-5. doi: 10.1126/science.1251688. Epub 2014 Jun 12.

39.

Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.

Vacic V, Ozelius LJ, Clark LN, Bar-Shira A, Gana-Weisz M, Gurevich T, Gusev A, Kedmi M, Kenny EE, Liu X, Mejia-Santana H, Mirelman A, Raymond D, Saunders-Pullman R, Desnick RJ, Atzmon G, Burns ER, Ostrer H, Hakonarson H, Bergman A, Barzilai N, Darvasi A, Peter I, Guha S, Lencz T, Giladi N, Marder K, Pe'er I, Bressman SB, Orr-Urtreger A.

Hum Mol Genet. 2014 Sep 1;23(17):4693-702. doi: 10.1093/hmg/ddu158. Epub 2014 May 19.

40.

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang ZZ, Bizon C, Lange EM, Smith JD, Turner EH, Jun G, Kang HM, Peloso G, Auer P, Li KP, Flannick J, Zhang J, Fuchsberger C, Gaulton K, Lindgren C, Locke A, Manning A, Sim X, Rivas MA, Holmen OL, Gottesman O, Lu Y, Ruderfer D, Stahl EA, Duan Q, Li Y, Durda P, Jiao S, Isaacs A, Hofman A, Bis JC, Correa A, Griswold ME, Jakobsdottir J, Smith AV, Schreiner PJ, Feitosa MF, Zhang Q, Huffman JE, Crosby J, Wassel CL, Do R, Franceschini N, Martin LW, Robinson JG, Assimes TL, Crosslin DR, Rosenthal EA, Tsai M, Rieder MJ, Farlow DN, Folsom AR, Lumley T, Fox ER, Carlson CS, Peters U, Jackson RD, van Duijn CM, Uitterlinden AG, Levy D, Rotter JI, Taylor HA, Gudnason V Jr, Siscovick DS, Fornage M, Borecki IB, Hayward C, Rudan I, Chen YE, Bottinger EP, Loos RJ, Sætrom P, Hveem K, Boehnke M, Groop L, McCarthy M, Meitinger T, Ballantyne CM, Gabriel SB, O'Donnell CJ, Post WS, North KE, Reiner AP, Boerwinkle E, Psaty BM, Altshuler D, Kathiresan S, Lin DY, Jarvik GP, Cupples LA, Kooperberg C, Wilson JG, Nickerson DA, Abecasis GR, Rich SS, Tracy RP, Willer CJ; NHLBI Grand Opportunity Exome Sequencing Project.

Am J Hum Genet. 2014 Feb 6;94(2):233-45. doi: 10.1016/j.ajhg.2014.01.010.

41.

Reconstructing Native American migrations from whole-genome and whole-exome data.

Gravel S, Zakharia F, Moreno-Estrada A, Byrnes JK, Muzzio M, Rodriguez-Flores JL, Kenny EE, Gignoux CR, Maples BK, Guiblet W, Dutil J, Via M, Sandoval K, Bedoya G; 1000 Genomes Project, Oleksyk TK, Ruiz-Linares A, Burchard EG, Martinez-Cruzado JC, Bustamante CD.

PLoS Genet. 2013;9(12):e1004023. doi: 10.1371/journal.pgen.1004023. Epub 2013 Dec 26.

42.

Imputation-based assessment of next generation rare exome variant arrays.

Martin AR, Tse G, Bustamante CD, Kenny EE.

Pac Symp Biocomput. 2014:241-52.

43.

Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset.

Gordon AS, Tabor HK, Johnson AD, Snively BM, Assimes TL, Auer PL, Ioannidis JP, Peters U, Robinson JG, Sucheston LE, Wang D, Sotoodehnia N, Rotter JI, Psaty BM, Jackson RD, Herrington DM, O'Donnell CJ, Reiner AP, Rich SS, Rieder MJ, Bamshad MJ, Nickerson DA; NHLBI GO Exome Sequencing Project.

Hum Mol Genet. 2014 Apr 15;23(8):1957-63. doi: 10.1093/hmg/ddt588. Epub 2013 Nov 26.

44.

Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia.

Rosenthal EA, Ranchalis J, Crosslin DR, Burt A, Brunzell JD, Motulsky AG, Nickerson DA; NHLBI GO Exome Sequencing Project, Wijsman EM, Jarvik GP.

Am J Hum Genet. 2013 Dec 5;93(6):1035-45. doi: 10.1016/j.ajhg.2013.10.019. Epub 2013 Nov 21.

45.

Integrative annotation of variants from 1092 humans: application to cancer genomics.

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