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Extent to which array genotyping and imputation with large reference panels approximate deep whole-genome sequencing.
Hanks SC, Forer L, Schönherr S, LeFaive J, Martins T, Welch R, Gagliano Taliun SA, Braff D, Johnsen JM, Kenny EE, Konkle BA, Laakso M, Loos RFJ, McCarroll S, Pato C, Pato MT, Smith AV; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Boehnke M, Scott LJ, Fuchsberger C. Hanks SC, et al. Among authors: scott lj. Am J Hum Genet. 2022 Sep 1;109(9):1653-1666. doi: 10.1016/j.ajhg.2022.07.012. Epub 2022 Aug 17. Am J Hum Genet. 2022. PMID: 35981533 Free PMC article.
Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns.
Mohlke KL, Jackson AU, Scott LJ, Peck EC, Suh YD, Chines PS, Watanabe RM, Buchanan TA, Conneely KN, Erdos MR, Narisu N, Enloe S, Valle TT, Tuomilehto J, Bergman RN, Boehnke M, Collins FS. Mohlke KL, et al. Among authors: scott lj. Hum Genet. 2005 Nov;118(2):245-54. doi: 10.1007/s00439-005-0046-4. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16142453 Free article.
Tag SNP selection for Finnish individuals based on the CEPH Utah HapMap database.
Willer CJ, Scott LJ, Bonnycastle LL, Jackson AU, Chines P, Pruim R, Bark CW, Tsai YY, Pugh EW, Doheny KF, Kinnunen L, Mohlke KL, Valle TT, Bergman RN, Tuomilehto J, Collins FS, Boehnke M. Willer CJ, et al. Among authors: scott lj. Genet Epidemiol. 2006 Feb;30(2):180-90. doi: 10.1002/gepi.20131. Genet Epidemiol. 2006. PMID: 16374835 Free article.
Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes.
Willer CJ, Bonnycastle LL, Conneely KN, Duren WL, Jackson AU, Scott LJ, Narisu N, Chines PS, Skol A, Stringham HM, Petrie J, Erdos MR, Swift AJ, Enloe ST, Sprau AG, Smith E, Tong M, Doheny KF, Pugh EW, Watanabe RM, Buchanan TA, Valle TT, Bergman RN, Tuomilehto J, Mohlke KL, Collins FS, Boehnke M. Willer CJ, et al. Among authors: scott lj. Diabetes. 2007 Jan;56(1):256-64. doi: 10.2337/db06-0461. Diabetes. 2007. PMID: 17192490
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.
Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, Duren WL, Erdos MR, Stringham HM, Chines PS, Jackson AU, Prokunina-Olsson L, Ding CJ, Swift AJ, Narisu N, Hu T, Pruim R, Xiao R, Li XY, Conneely KN, Riebow NL, Sprau AG, Tong M, White PP, Hetrick KN, Barnhart MW, Bark CW, Goldstein JL, Watkins L, Xiang F, Saramies J, Buchanan TA, Watanabe RM, Valle TT, Kinnunen L, Abecasis GR, Pugh EW, Doheny KF, Bergman RN, Tuomilehto J, Collins FS, Boehnke M. Scott LJ, et al. Science. 2007 Jun 1;316(5829):1341-5. doi: 10.1126/science.1142382. Epub 2007 Apr 26. Science. 2007. PMID: 17463248 Free PMC article.
584 results