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Items: 1 to 20 of 208

1.

Structural Variation Detection by Proximity Ligation from Formalin-Fixed, Paraffin-Embedded Tumor Tissue.

Troll CJ, Putnam NH, Hartley PD, Rice B, Blanchette M, Siddiqui S, Ganbat JO, Powers MP, Ramakrishnan R, Kunder CA, Bustamante CD, Zehnder JL, Green RE, Costa HA.

J Mol Diagn. 2018 Dec 31. pii: S1525-1578(18)30172-7. doi: 10.1016/j.jmoldx.2018.11.003. [Epub ahead of print]

PMID:
30605765
2.

Polygenic risk scores: a biased prediction?

De La Vega FM, Bustamante CD.

Genome Med. 2018 Dec 27;10(1):100. doi: 10.1186/s13073-018-0610-x.

3.

Rapid evolution of a skin-lightening allele in southern African KhoeSan.

Lin M, Siford RL, Martin AR, Nakagome S, Möller M, Hoal EG, Bustamante CD, Gignoux CR, Henn BM.

Proc Natl Acad Sci U S A. 2018 Dec 26;115(52):13324-13329. doi: 10.1073/pnas.1801948115. Epub 2018 Dec 10.

PMID:
30530665
4.

Standardized biogeographic grouping system for annotating populations in pharmacogenetic research.

Huddart R, Fohner AE, Whirl-Carrillo M, Wojcik GL, Gignoux CR, Popejoy AB, Bustamante CD, Altman RB, Klein TE.

Clin Pharmacol Ther. 2018 Dec 1. doi: 10.1002/cpt.1322. [Epub ahead of print]

PMID:
30506572
5.

Gut microbiome transition across a lifestyle gradient in Himalaya.

Jha AR, Davenport ER, Gautam Y, Bhandari D, Tandukar S, Ng KM, Fragiadakis GK, Holmes S, Gautam GP, Leach J, Sherchand JB, Bustamante CD, Sonnenburg JL.

PLoS Biol. 2018 Nov 15;16(11):e2005396. doi: 10.1371/journal.pbio.2005396. eCollection 2018 Nov.

6.

Population genomic analyses of the chocolate tree, Theobroma cacao L., provide insights into its domestication process.

Cornejo OE, Yee MC, Dominguez V, Andrews M, Sockell A, Strandberg E, Livingstone D 3rd, Stack C, Romero A, Umaharan P, Royaert S, Tawari NR, Ng P, Gutierrez O, Phillips W, Mockaitis K, Bustamante CD, Motamayor JC.

Commun Biol. 2018 Oct 16;1:167. doi: 10.1038/s42003-018-0168-6. eCollection 2018.

7.

Gene expression imputation identifies candidate genes and susceptibility loci associated with cutaneous squamous cell carcinoma.

Ioannidis NM, Wang W, Furlotte NA, Hinds DA; 23andMe Research Team, Bustamante CD, Jorgenson E, Asgari MM, Whittemore AS.

Nat Commun. 2018 Oct 15;9(1):4264. doi: 10.1038/s41467-018-06149-6.

8.

The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics.

Popejoy AB, Ritter DI, Crooks K, Currey E, Fullerton SM, Hindorff LA, Koenig B, Ramos EM, Sorokin EP, Wand H, Wright MW, Zou J, Gignoux CR, Bonham VL, Plon SE, Bustamante CD; Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group (ADWG).

Hum Mutat. 2018 Nov;39(11):1713-1720. doi: 10.1002/humu.23644.

PMID:
30311373
9.

Data mining of digitized health records in a resource-constrained setting reveals that timely immunophenotyping is associated with improved breast cancer outcomes.

López-Pineda A, Rodríguez-Moran MF, Álvarez-Aguilar C, Fuentes Valle SM, Acosta-Rosales R, Bhatt AS, Sheth SN, Bustamante CD.

BMC Cancer. 2018 Sep 27;18(1):933. doi: 10.1186/s12885-018-4833-4.

10.

An admixture mapping meta-analysis implicates genetic variation at 18q21 with asthma susceptibility in Latinos.

Gignoux CR, Torgerson DG, Pino-Yanes M, Uricchio LH, Galanter J, Roth LA, Eng C, Hu D, Nguyen EA, Huntsman S, Mathias RA, Kumar R, Rodriguez-Santana J, Thakur N, Oh SS, McGarry M, Moreno-Estrada A, Sandoval K, Winkler CA, Seibold MA, Padhukasahasram B, Conti DV, Farber HJ, Avila P, Brigino-Buenaventura E, Lenoir M, Meade K, Serebrisky D, Borrell LN, Rodriguez-Cintron W, Thyne S, Joubert BR, Romieu I, Levin AM, Sienra-Monge JJ, Del Rio-Navarro BE, Gan W, Raby BA, Weiss ST, Bleecker E, Meyers DA, Martinez FJ, Gauderman WJ, Gilliland F, London SJ, Bustamante CD, Nicolae DL, Ober C, Sen S, Barnes K, Williams LK, Hernandez RD, Burchard EG.

J Allergy Clin Immunol. 2018 Sep 7. pii: S0091-6749(18)31274-0. doi: 10.1016/j.jaci.2016.08.057. [Epub ahead of print]

PMID:
30201514
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.

In-solution Y-chromosome capture-enrichment on ancient DNA libraries.

Cruz-Dávalos DI, Nieves-Colón MA, Sockell A, Poznik GD, Schroeder H, Stone AC, Bustamante CD, Malaspinas AS, Ávila-Arcos MC.

BMC Genomics. 2018 Aug 14;19(1):608. doi: 10.1186/s12864-018-4945-x.

13.

Network enhancement as a general method to denoise weighted biological networks.

Wang B, Pourshafeie A, Zitnik M, Zhu J, Bustamante CD, Batzoglou S, Leskovec J.

Nat Commun. 2018 Aug 6;9(1):3108. doi: 10.1038/s41467-018-05469-x.

14.

Ancient genomes from North Africa evidence prehistoric migrations to the Maghreb from both the Levant and Europe.

Fregel R, Méndez FL, Bokbot Y, Martín-Socas D, Camalich-Massieu MD, Santana J, Morales J, Ávila-Arcos MC, Underhill PA, Shapiro B, Wojcik G, Rasmussen M, Soares AER, Kapp J, Sockell A, Rodríguez-Santos FJ, Mikdad A, Trujillo-Mederos A, Bustamante CD.

Proc Natl Acad Sci U S A. 2018 Jun 26;115(26):6774-6779. doi: 10.1073/pnas.1800851115. Epub 2018 Jun 12. Erratum in: Proc Natl Acad Sci U S A. 2018 Jul 24;115(30):E7231.

15.

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

Waszak SM, Northcott PA, Buchhalter I, Robinson GW, Sutter C, Groebner S, Grund KB, Brugières L, Jones DTW, Pajtler KW, Morrissy AS, Kool M, Sturm D, Chavez L, Ernst A, Brabetz S, Hain M, Zichner T, Segura-Wang M, Weischenfeldt J, Rausch T, Mardin BR, Zhou X, Baciu C, Lawerenz C, Chan JA, Varlet P, Guerrini-Rousseau L, Fults DW, Grajkowska W, Hauser P, Jabado N, Ra YS, Zitterbart K, Shringarpure SS, De La Vega FM, Bustamante CD, Ng HK, Perry A, MacDonald TJ, Hernáiz Driever P, Bendel AE, Bowers DC, McCowage G, Chintagumpala MM, Cohn R, Hassall T, Fleischhack G, Eggen T, Wesenberg F, Feychting M, Lannering B, Schüz J, Johansen C, Andersen TV, Röösli M, Kuehni CE, Grotzer M, Kjaerheim K, Monoranu CM, Archer TC, Duke E, Pomeroy SL, Shelagh R, Frank S, Sumerauer D, Scheurlen W, Ryzhova MV, Milde T, Kratz CP, Samuel D, Zhang J, Solomon DA, Marra M, Eils R, Bartram CR, von Hoff K, Rutkowski S, Ramaswamy V, Gilbertson RJ, Korshunov A, Taylor MD, Lichter P, Malkin D, Gajjar A, Korbel JO, Pfister SM.

Lancet Oncol. 2018 Jun;19(6):785-798. doi: 10.1016/S1470-2045(18)30242-0. Epub 2018 May 9.

16.

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.

17.

Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.

DeBoever C, Tanigawa Y, Lindholm ME, McInnes G, Lavertu A, Ingelsson E, Chang C, Ashley EA, Bustamante CD, Daly MJ, Rivas MA.

Nat Commun. 2018 Apr 24;9(1):1612. doi: 10.1038/s41467-018-03910-9.

18.

Next-Generation Sequencing of the Complete Mitochondrial Genome of the Endangered Species Black Lion Tamarin Leontopithecus chrysopygus (Primates) and Mitogenomic Phylogeny Focusing on the Callitrichidae Family.

de Freitas PD, Mendez FL, Chávez-Congrains K, Galetti PM Jr, Coutinho LL, Pissinatti A, Bustamante CD.

G3 (Bethesda). 2018 May 31;8(6):1985-1991. doi: 10.1534/g3.118.200153.

19.

Genomic insights into the origin and diversification of late maritime hunter-gatherers from the Chilean Patagonia.

de la Fuente C, Ávila-Arcos MC, Galimany J, Carpenter ML, Homburger JR, Blanco A, Contreras P, Cruz Dávalos D, Reyes O, San Roman M, Moreno-Estrada A, Campos PF, Eng C, Huntsman S, Burchard EG, Malaspinas AS, Bustamante CD, Willerslev E, Llop E, Verdugo RA, Moraga M.

Proc Natl Acad Sci U S A. 2018 Apr 24;115(17):E4006-E4012. doi: 10.1073/pnas.1715688115. Epub 2018 Apr 9.

20.

Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Bhattacharya S, Li J, Sockell A, Kan MJ, Bava FA, Chen SC, Ávila-Arcos MC, Ji X, Smith E, Asadi NB, Lachman RS, Lam HYK, Bustamante CD, Butte AJ, Nolan GP.

Genome Res. 2018 Apr;28(4):423-431. doi: 10.1101/gr.223693.117. Epub 2018 Mar 22.

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