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A saturated map of common genetic variants associated with human height.
Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU, Jiang Y, Raghavan S, Miao J, Arias JD, Graham SE, Mukamel RE, Spracklen CN, Yin X, Chen SH, Ferreira T, Highland HH, Ji Y, Karaderi T, Lin K, Lüll K, Malden DE, Medina-Gomez C, Machado M, Moore A, Rüeger S, Sim X, Vrieze S, Ahluwalia TS, Akiyama M, Allison MA, Alvarez M, Andersen MK, Ani A, Appadurai V, Arbeeva L, Bhaskar S, Bielak LF, Bollepalli S, Bonnycastle LL, Bork-Jensen J, Bradfield JP, Bradford Y, Braund PS, Brody JA, Burgdorf KS, Cade BE, Cai H, Cai Q, Campbell A, Cañadas-Garre M, Catamo E, Chai JF, Chai X, Chang LC, Chang YC, Chen CH, Chesi A, Choi SH, Chung RH, Cocca M, Concas MP, Couture C, Cuellar-Partida G, Danning R, Daw EW, Degenhard F, Delgado GE, Delitala A, Demirkan A, Deng X, Devineni P, Dietl A, Dimitriou M, Dimitrov L, Dorajoo R, Ekici AB, Engmann JE, Fairhurst-Hunter Z, Farmaki AE, Faul JD, Fernandez-Lopez JC, Forer L, Francescatto M, Freitag-Wolf S, Fuchsberger C, Galesloot TE, Gao Y, Gao Z, Geller F, Giannakopoulou O, Giulianini F, Gjesing AP, Goel A, Gordon SD, Gorski M, Grove J, Guo X, Gustafsson S, Haessler J, Hansen TF, Havulinna AS, Haworth SJ, He J, Heard-Costa N, … See abstract for full author list ➔ Yengo L, et al. Nature. 2022 Oct;610(7933):704-712. doi: 10.1038/s41586-022-05275-y. Epub 2022 Oct 12. Nature. 2022. PMID: 36224396 Free PMC article.
Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitions.
Yu J, Pacheco JA, Ghosh AS, Luo Y, Weng C, Shang N, Benoit B, Carrell DS, Carroll RJ, Dikilitas O, Freimuth RR, Gainer VS, Hakonarson H, Hripcsak G, Kullo IJ, Mentch F, Murphy SN, Peissig PL, Ramirez AH, Walton N, Wei WQ, Rasmussen LV. Yu J, et al. BMC Med Inform Decis Mak. 2022 Jan 28;22(1):23. doi: 10.1186/s12911-022-01759-z. BMC Med Inform Decis Mak. 2022. PMID: 35090449 Free PMC article.
Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network.
Lynch JA, Sharp RR, Aufox SA, Bland ST, Blout C, Bowen DJ, Buchanan AH, Halverson C, Harr M, Hebbring SJ, Henrikson N, Hoell C, Holm IA, Jarvik G, Kullo IJ, Kochan DC, Larson EB, Lazzeri A, Leppig KA, Madden J, Marasa M, Myers MF, Peterson J, Prows CA, Kulchak Rahm A, Ralston J, Milo Rasouly H, Scrol A, Smith ME, Sturm A, Stuttgen K, Wiesner G, Williams MS, Wynn J, Williams JL. Lynch JA, et al. J Pers Med. 2020 May 13;10(2):38. doi: 10.3390/jpm10020038. J Pers Med. 2020. PMID: 32413979 Free PMC article.
Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network.
Wiesner GL, Kulchak Rahm A, Appelbaum P, Aufox S, Bland ST, Blout CL, Christensen KD, Chung WK, Clayton EW, Green RC, Harr MH, Henrikson N, Hoell C, Holm IA, Jarvik GP, Kullo IJ, Lammers PE, Larson EB, Lindor NM, Marasa M, F Myers M, Peterson JF, Prows CA, Ralston JD, Milo Rasouly H, Sharp RR, Smith ME, Van Driest SL, Williams JL, Williams MS, Wynn J, Leppig KA. Wiesner GL, et al. J Pers Med. 2020 Apr 27;10(2):30. doi: 10.3390/jpm10020030. J Pers Med. 2020. PMID: 32349224 Free PMC article.