Improved whole-chromosome phasing for disease and population genetic studies - PubMed

Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder.

Hou L, Bergen SE, Akula N, Song J, Hultman CM, Landén M, Adli M, Alda M, Ardau R, Arias B, Aubry JM, Backlund L, Badner JA, Barrett TB, Bauer M, Baune BT, Bellivier F, Benabarre A, Bengesser S, Berrettini WH, Bhattacharjee AK, Biernacka JM, Birner A, Bloss CS, Brichant-Petitjean C, Bui ET, Byerley W, Cervantes P, Chillotti C, Cichon S, Colom F, Coryell W, Craig DW, Cruceanu C, Czerski PM, Davis T, Dayer A, Degenhardt F, Del Zompo M, DePaulo JR, Edenberg HJ, Étain B, Falkai P, Foroud T, Forstner AJ, Frisén L, Frye MA, Fullerton JM, Gard S, Garnham JS, Gershon ES, Goes FS, Greenwood TA, Grigoroiu-Serbanescu M, Hauser J, Heilbronner U, Heilmann-Heimbach S, Herms S, Hipolito M, Hitturlingappa S, Hoffmann P, Hofmann A, Jamain S, Jiménez E, Kahn JP, Kassem L, Kelsoe JR, Kittel-Schneider S, Kliwicki S, Koller DL, König B, Lackner N, Laje G, Lang M, Lavebratt C, Lawson WB, Leboyer M, Leckband SG, Liu C, Maaser A, Mahon PB, Maier W, Maj M, Manchia M, Martinsson L, McCarthy MJ, McElroy SL, McInnis MG, McKinney R, Mitchell PB, Mitjans M, Mondimore FM, Monteleone P, Mühleisen TW, Nievergelt CM, Nöthen MM, Novák T, Nurnberger JI Jr, Nwulia EA, Ösby U, Pfennig A, Potash JB, Propping P, Reif A, … See abstract for full author list ➔ Hou L, et al. Hum Mol Genet. 2016 Aug 1;25(15):3383-3394. doi: 10.1093/hmg/ddw181. Epub 2016 Jun 21. Hum Mol Genet. 2016. PMID: 27329760 Free PMC article.

A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle.

Schwarzenbacher H, Burgstaller J, Seefried FR, Wurmser C, Hilbe M, Jung S, Fuerst C, Dinhopl N, Weissenböck H, Fuerst-Waltl B, Dolezal M, Winkler R, Grueter O, Bleul U, Wittek T, Fries R, Pausch H. Schwarzenbacher H, et al. BMC Genomics. 2016 May 25;17:400. doi: 10.1186/s12864-016-2742-y. BMC Genomics. 2016. PMID: 27225349 Free PMC article.

Positive selection rather than relaxation of functional constraint drives the evolution of vision during chicken domestication.

Wang MS, Zhang RW, Su LY, Li Y, Peng MS, Liu HQ, Zeng L, Irwin DM, Du JL, Yao YG, Wu DD, Zhang YP. Wang MS, et al. Cell Res. 2016 May;26(5):556-73. doi: 10.1038/cr.2016.44. Epub 2016 Apr 1. Cell Res. 2016. PMID: 27033669 Free PMC article.

Genetic risk scores: are they important for diabetes management? results from multiple cross-sectional studies.

Nagarajah S, Alkandari A, Marques-Vidal P. Nagarajah S, et al. Diabetol Metab Syndr. 2023 Nov 10;15(1):227. doi: 10.1186/s13098-023-01204-9. Diabetol Metab Syndr. 2023. PMID: 37950303 Free PMC article.

A reference panel of 64,976 haplotypes for genotype imputation.

McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, Luo Y, Sidore C, Kwong A, Timpson N, Koskinen S, Vrieze S, Scott LJ, Zhang H, Mahajan A, Veldink J, Peters U, Pato C, van Duijn CM, Gillies CE, Gandin I, Mezzavilla M, Gilly A, Cocca M, Traglia M, Angius A, Barrett JC, Boomsma D, Branham K, Breen G, Brummett CM, Busonero F, Campbell H, Chan A, Chen S, Chew E, Collins FS, Corbin LJ, Smith GD, Dedoussis G, Dorr M, Farmaki AE, Ferrucci L, Forer L, Fraser RM, Gabriel S, Levy S, Groop L, Harrison T, Hattersley A, Holmen OL, Hveem K, Kretzler M, Lee JC, McGue M, Meitinger T, Melzer D, Min JL, Mohlke KL, Vincent JB, Nauck M, Nickerson D, Palotie A, Pato M, Pirastu N, McInnis M, Richards JB, Sala C, Salomaa V, Schlessinger D, Schoenherr S, Slagboom PE, Small K, Spector T, Stambolian D, Tuke M, Tuomilehto J, Van den Berg LH, Van Rheenen W, Volker U, Wijmenga C, Toniolo D, Zeggini E, Gasparini P, Sampson MG, Wilson JF, Frayling T, de Bakker PI, Swertz MA, McCarroll S, Kooperberg C, Dekker A, Altshuler D, Willer C, Iacono W, Ripatti S, Soranzo N, Walter K, Swaroop A, Cucca F, Anderson CA, Myers RM, Boehnke M, McCarthy MI, Durbin R; Ha… See abstract for full author list ➔ McCarthy S, et al. Nat Genet. 2016 Oct;48(10):1279-83. doi: 10.1038/ng.3643. Epub 2016 Aug 22. Nat Genet. 2016. PMID: 27548312 Free PMC article.