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Results: 1 to 20 of 335

1.

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.

Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin SY, Chen L, Futema M, Southam L, Iotchkova V, Cocca M, Huang J, Memari Y, McCarthy S, Danecek P, Muddyman D, Mangino M, Menni C, Perry JR, Ring SM, Gaye A, Dedoussis G, Farmaki AE, Burton P, Talmud PJ, Gambaro G, Spector TD, Smith GD, Durbin R, Richards JB, Humphries SE, Zeggini E, Soranzo N; UK1OK consortium members; UK1OK consortium members.

Nat Commun. 2014 Sep 16;5:4871. doi: 10.1038/ncomms5871.

PMID:
25225788
[PubMed - in process]
2.

Distribution and medical impact of loss-of-function variants in the Finnish founder population.

Lim ET, Würtz P, Havulinna AS, Palta P, Tukiainen T, Rehnström K, Esko T, Mägi R, Inouye M, Lappalainen T, Chan Y, Salem RM, Lek M, Flannick J, Sim X, Manning A, Ladenvall C, Bumpstead S, Hämäläinen E, Aalto K, Maksimow M, Salmi M, Blankenberg S, Ardissino D, Shah S, Horne B, McPherson R, Hovingh GK, Reilly MP, Watkins H, Goel A, Farrall M, Girelli D, Reiner AP, Stitziel NO, Kathiresan S, Gabriel S, Barrett JC, Lehtimäki T, Laakso M, Groop L, Kaprio J, Perola M, McCarthy MI, Boehnke M, Altshuler DM, Lindgren CM, Hirschhorn JN, Metspalu A, Freimer NB, Zeller T, Jalkanen S, Koskinen S, Raitakari O, Durbin R, MacArthur DG, Salomaa V, Ripatti S, Daly MJ, Palotie A; Sequencing Initiative Suomi (SISu) Project.

PLoS Genet. 2014 Jul 31;10(7):e1004494. doi: 10.1371/journal.pgen.1004494. eCollection 2014 Jul.

PMID:
25078778
[PubMed - in process]
Free PMC Article
3.

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.

PMID:
24980144
[PubMed - in process]
4.

Inferring human population size and separation history from multiple genome sequences.

Schiffels S, Durbin R.

Nat Genet. 2014 Aug;46(8):919-25. doi: 10.1038/ng.3015. Epub 2014 Jun 22.

PMID:
24952747
[PubMed - in process]
5.

Genetic interactions affecting human gene expression identified by variance association mapping.

Brown AA, Buil A, Viñuela A, Lappalainen T, Zheng HF, Richards JB, Small KS, Spector TD, Dermitzakis ET, Durbin R.

Elife. 2014 Apr 25;3:e01381. doi: 10.7554/eLife.01381.

PMID:
24771767
[PubMed - in process]
Free PMC Article
6.

Estimating telomere length from whole genome sequence data.

Ding Z, Mangino M, Aviv A, Spector T, Durbin R; UK10K Consortium.

Nucleic Acids Res. 2014;42(9):e75. doi: 10.1093/nar/gku181. Epub 2014 Mar 7.

PMID:
24609383
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

A high-definition view of functional genetic variation from natural yeast genomes.

Bergström A, Simpson JT, Salinas F, Barré B, Parts L, Zia A, Nguyen Ba AN, Moses AM, Louis EJ, Mustonen V, Warringer J, Durbin R, Liti G.

Mol Biol Evol. 2014 Apr;31(4):872-88. doi: 10.1093/molbev/msu037. Epub 2014 Jan 14.

PMID:
24425782
[PubMed - in process]
Free PMC Article
8.

Managing clinically significant findings in research: the UK10K example.

Kaye J, Hurles M, Griffin H, Grewal J, Bobrow M, Timpson N, Smee C, Bolton P, Durbin R, Dyke S, Fitzpatrick D, Kennedy K, Kent A, Muddyman D, Muntoni F, Raymond LF, Semple R, Spector T; UK 10K.

Eur J Hum Genet. 2014 Sep;22(9):1100-4. doi: 10.1038/ejhg.2013.290. Epub 2014 Jan 15.

PMID:
24424120
[PubMed - in process]
Free PMC Article
9.

Efficient haplotype matching and storage using the positional Burrows-Wheeler transform (PBWT).

Durbin R.

Bioinformatics. 2014 May 1;30(9):1266-72. doi: 10.1093/bioinformatics/btu014. Epub 2014 Jan 9.

PMID:
24413527
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

The anatomy of successful computational biology software.

Altschul S, Demchak B, Durbin R, Gentleman R, Krzywinski M, Li H, Nekrutenko A, Robinson J, Rasband W, Taylor J, Trapnell C.

Nat Biotechnol. 2013 Oct;31(10):894-7. doi: 10.1038/nbt.2721. No abstract available.

PMID:
24104757
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

High-resolution mapping of complex traits with a four-parent advanced intercross yeast population.

Cubillos FA, Parts L, Salinas F, Bergström A, Scovacricchi E, Zia A, Illingworth CJ, Mustonen V, Ibstedt S, Warringer J, Louis EJ, Durbin R, Liti G.

Genetics. 2013 Nov;195(3):1141-55. doi: 10.1534/genetics.113.155515. Epub 2013 Sep 13.

PMID:
24037264
[PubMed - indexed for MEDLINE]
12.

Interferon induction and function at the mucosal surface.

Durbin RK, Kotenko SV, Durbin JE.

Immunol Rev. 2013 Sep;255(1):25-39. doi: 10.1111/imr.12101. Review.

PMID:
23947345
[PubMed - indexed for MEDLINE]
13.

Gene expression changes with age in skin, adipose tissue, blood and brain.

Glass D, Viñuela A, Davies MN, Ramasamy A, Parts L, Knowles D, Brown AA, Hedman AK, Small KS, Buil A, Grundberg E, Nica AC, Di Meglio P, Nestle FO, Ryten M; UK Brain Expression consortium; MuTHER consortium, Durbin R, McCarthy MI, Deloukas P, Dermitzakis ET, Weale ME, Bataille V, Spector TD.

Genome Biol. 2013 Jul 26;14(7):R75. doi: 10.1186/gb-2013-14-7-r75.

PMID:
23889843
[PubMed - in process]
Free PMC Article
14.

Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species.

Bradnam KR, Fass JN, Alexandrov A, Baranay P, Bechner M, Birol I, Boisvert S, Chapman JA, Chapuis G, Chikhi R, Chitsaz H, Chou WC, Corbeil J, Del Fabbro C, Docking TR, Durbin R, Earl D, Emrich S, Fedotov P, Fonseca NA, Ganapathy G, Gibbs RA, Gnerre S, Godzaridis E, Goldstein S, Haimel M, Hall G, Haussler D, Hiatt JB, Ho IY, Howard J, Hunt M, Jackman SD, Jaffe DB, Jarvis ED, Jiang H, Kazakov S, Kersey PJ, Kitzman JO, Knight JR, Koren S, Lam TW, Lavenier D, Laviolette F, Li Y, Li Z, Liu B, Liu Y, Luo R, Maccallum I, Macmanes MD, Maillet N, Melnikov S, Naquin D, Ning Z, Otto TD, Paten B, Paulo OS, Phillippy AM, Pina-Martins F, Place M, Przybylski D, Qin X, Qu C, Ribeiro FJ, Richards S, Rokhsar DS, Ruby JG, Scalabrin S, Schatz MC, Schwartz DC, Sergushichev A, Sharpe T, Shaw TI, Shendure J, Shi Y, Simpson JT, Song H, Tsarev F, Vezzi F, Vicedomini R, Vieira BM, Wang J, Worley KC, Yin S, Yiu SM, Yuan J, Zhang G, Zhang H, Zhou S, Korf IF.

Gigascience. 2013 Jul 22;2(1):10. doi: 10.1186/2047-217X-2-10.

PMID:
23870653
[PubMed]
Free PMC Article
15.

A genome-wide survey of genetic variation in gorillas using reduced representation sequencing.

Scally A, Yngvadottir B, Xue Y, Ayub Q, Durbin R, Tyler-Smith C.

PLoS One. 2013 Jun 4;8(6):e65066. doi: 10.1371/journal.pone.0065066. Print 2013.

PMID:
23750230
[PubMed - in process]
Free PMC Article
16.

Bladder stones in Afghan children.

Brisson P, Woll M, Parker D, Durbin R.

Mil Med. 2012 Nov;177(11):1403-5.

PMID:
23198522
[PubMed - indexed for MEDLINE]
17.

An integrated map of genetic variation from 1,092 human genomes.

1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA.

Nature. 2012 Nov 1;491(7422):56-65. doi: 10.1038/nature11632.

PMID:
23128226
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Revising the human mutation rate: implications for understanding human evolution.

Scally A, Durbin R.

Nat Rev Genet. 2012 Oct;13(10):745-53. doi: 10.1038/nrg3295. Epub 2012 Sep 11. Erratum in: Nat Rev Genet. 2012 Nov;13(11):824.

PMID:
22965354
[PubMed - indexed for MEDLINE]
19.

Mapping cis- and trans-regulatory effects across multiple tissues in twins.

Grundberg E, Small KS, Hedman ÅK, Nica AC, Buil A, Keildson S, Bell JT, Yang TP, Meduri E, Barrett A, Nisbett J, Sekowska M, Wilk A, Shin SY, Glass D, Travers M, Min JL, Ring S, Ho K, Thorleifsson G, Kong A, Thorsteindottir U, Ainali C, Dimas AS, Hassanali N, Ingle C, Knowles D, Krestyaninova M, Lowe CE, Di Meglio P, Montgomery SB, Parts L, Potter S, Surdulescu G, Tsaprouni L, Tsoka S, Bataille V, Durbin R, Nestle FO, O'Rahilly S, Soranzo N, Lindgren CM, Zondervan KT, Ahmadi KR, Schadt EE, Stefansson K, Smith GD, McCarthy MI, Deloukas P, Dermitzakis ET, Spector TD; Multiple Tissue Human Expression Resource (MuTHER) Consortium.

Nat Genet. 2012 Oct;44(10):1084-9. doi: 10.1038/ng.2394. Epub 2012 Sep 2.

PMID:
22941192
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Current clinical coverage of Radiation Therapy Oncology Group-defined target volumes for postmastectomy radiation therapy.

Fontanilla HP, Woodward WA, Lindberg ME, Kanke JE, Arora G, Durbin RR, Yu TK, Zhang L, Sharp HJ, Strom EA, Salehpour M, White J, Buchholz TA, Dong L.

Pract Radiat Oncol. 2012 Jul-Sep;2(3):201-9. doi: 10.1016/j.prro.2011.10.001. Epub 2011 Nov 15.

PMID:
24674124
[PubMed]

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