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Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.
Yin X, Chan LS, Bose D, Jackson AU, VandeHaar P, Locke AE, Fuchsberger C, Stringham HM, Welch R, Yu K, Fernandes Silva L, Service SK, Zhang D, Hector EC, Young E, Ganel L, Das I, Abel H, Erdos MR, Bonnycastle LL, Kuusisto J, Stitziel NO, Hall IM, Wagner GR; FinnGen; Kang J, Morrison J, Burant CF, Collins FS, Ripatti S, Palotie A, Freimer NB, Mohlke KL, Scott LJ, Wen X, Fauman EB, Laakso M, Boehnke M. Yin X, et al. Among authors: abel h. Nat Commun. 2022 Mar 28;13(1):1644. doi: 10.1038/s41467-022-29143-5. Nat Commun. 2022. PMID: 35347128 Free PMC article.
svtools: population-scale analysis of structural variation.
Larson DE, Abel HJ, Chiang C, Badve A, Das I, Eldred JM, Layer RM, Hall IM. Larson DE, et al. Bioinformatics. 2019 Nov 1;35(22):4782-4787. doi: 10.1093/bioinformatics/btz492. Bioinformatics. 2019. PMID: 31218349 Free PMC article.
Exome sequencing of Finnish isolates enhances rare-variant association power.
Locke AE, Steinberg KM, Chiang CWK, Service SK, Havulinna AS, Stell L, Pirinen M, Abel HJ, Chiang CC, Fulton RS, Jackson AU, Kang CJ, Kanchi KL, Koboldt DC, Larson DE, Nelson J, Nicholas TJ, Pietilä A, Ramensky V, Ray D, Scott LJ, Stringham HM, Vangipurapu J, Welch R, Yajnik P, Yin X, Eriksson JG, Ala-Korpela M, Järvelin MR, Männikkö M, Laivuori H; FinnGen Project; Dutcher SK, Stitziel NO, Wilson RK, Hall IM, Sabatti C, Palotie A, Salomaa V, Laakso M, Ripatti S, Boehnke M, Freimer NB. Locke AE, et al. Among authors: abel hj. Nature. 2019 Aug;572(7769):323-328. doi: 10.1038/s41586-019-1457-z. Epub 2019 Jul 31. Nature. 2019. PMID: 31367044 Free PMC article.
Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power.
Locke AE, Steinberg KM, Chiang CWK, Service SK, Havulinna AS, Stell L, Pirinen M, Abel HJ, Chiang CC, Fulton RS, Jackson AU, Kang CJ, Kanchi KL, Koboldt DC, Larson DE, Nelson J, Nicholas TJ, Pietilä A, Ramensky V, Ray D, Scott LJ, Stringham HM, Vangipurapu J, Welch R, Yajnik P, Yin X, Eriksson JG, Ala-Korpela M, Järvelin MR, Männikkö M, Laivuori H; FinnGen Project; Dutcher SK, Stitziel NO, Wilson RK, Hall IM, Sabatti C, Palotie A, Salomaa V, Laakso M, Ripatti S, Boehnke M, Freimer NB. Locke AE, et al. Among authors: abel hj. Nature. 2019 Nov;575(7783):E4. doi: 10.1038/s41586-019-1726-x. Nature. 2019. PMID: 31686056
Mapping and characterization of structural variation in 17,795 human genomes.
Abel HJ, Larson DE, Regier AA, Chiang C, Das I, Kanchi KL, Layer RM, Neale BM, Salerno WJ, Reeves C, Buyske S; NHGRI Centers for Common Disease Genomics; Matise TC, Muzny DM, Zody MC, Lander ES, Dutcher SK, Stitziel NO, Hall IM. Abel HJ, et al. Nature. 2020 Jul;583(7814):83-89. doi: 10.1038/s41586-020-2371-0. Epub 2020 May 27. Nature. 2020. PMID: 32460305 Free PMC article.
Association of structural variation with cardiometabolic traits in Finns.
Chen L, Abel HJ, Das I, Larson DE, Ganel L, Kanchi KL, Regier AA, Young EP, Kang CJ, Scott AJ, Chiang C, Wang X, Lu S, Christ R, Service SK, Chiang CWK, Havulinna AS, Kuusisto J, Boehnke M, Laakso M, Palotie A, Ripatti S, Freimer NB, Locke AE, Stitziel NO, Hall IM. Chen L, et al. Am J Hum Genet. 2021 Apr 1;108(4):583-596. doi: 10.1016/j.ajhg.2021.03.008. Am J Hum Genet. 2021. PMID: 33798444 Free PMC article.
Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences.
Ganel L, Chen L, Christ R, Vangipurapu J, Young E, Das I, Kanchi K, Larson D, Regier A, Abel H, Kang CJ, Scott A, Havulinna A, Chiang CWK, Service S, Freimer N, Palotie A, Ripatti S, Kuusisto J, Boehnke M, Laakso M, Locke A, Stitziel NO, Hall IM. Ganel L, et al. Among authors: abel h. Hum Genomics. 2021 Jun 7;15(1):34. doi: 10.1186/s40246-021-00335-2. Hum Genomics. 2021. PMID: 34099068 Free PMC article.
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios.
Byrska-Bishop M, Evani US, Zhao X, Basile AO, Abel HJ, Regier AA, Corvelo A, Clarke WE, Musunuri R, Nagulapalli K, Fairley S, Runnels A, Winterkorn L, Lowy E; Human Genome Structural Variation Consortium; Paul Flicek, Germer S, Brand H, Hall IM, Talkowski ME, Narzisi G, Zody MC. Byrska-Bishop M, et al. Among authors: abel hj. Cell. 2022 Sep 1;185(18):3426-3440.e19. doi: 10.1016/j.cell.2022.08.004. Cell. 2022. PMID: 36055201 Free PMC article.
Validation of a next-generation sequencing assay for clinical molecular oncology.
Cottrell CE, Al-Kateb H, Bredemeyer AJ, Duncavage EJ, Spencer DH, Abel HJ, Lockwood CM, Hagemann IS, O'Guin SM, Burcea LC, Sawyer CS, Oschwald DM, Stratman JL, Sher DA, Johnson MR, Brown JT, Cliften PF, George B, McIntosh LD, Shrivastava S, Nguyen TT, Payton JE, Watson MA, Crosby SD, Head RD, Mitra RD, Nagarajan R, Kulkarni S, Seibert K, Virgin HW 4th, Milbrandt J, Pfeifer JD. Cottrell CE, et al. Among authors: abel hj. J Mol Diagn. 2014 Jan;16(1):89-105. doi: 10.1016/j.jmoldx.2013.10.002. Epub 2013 Nov 6. J Mol Diagn. 2014. PMID: 24211365 Free PMC article.
256 results