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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.
Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study.
Druley TE, Wang L, Lin SJ, Lee JH, Zhang Q, Daw EW, Abel HJ, Chasnoff SE, Ramos EI, Levinson BT, Thyagarajan B, Newman AB, Christensen K, Mayeux R, Province MA. Druley TE, et al. Among authors: abel hj. BMC Geriatr. 2016 Apr 9;16:80. doi: 10.1186/s12877-016-0253-y. BMC Geriatr. 2016. PMID: 27060904 Free PMC article.
SVScore: an impact prediction tool for structural variation.
Ganel L, Abel HJ; FinMetSeq Consortium; Hall IM. Ganel L, et al. Among authors: abel hj. Bioinformatics. 2017 Apr 1;33(7):1083-1085. doi: 10.1093/bioinformatics/btw789. Bioinformatics. 2017. PMID: 28031184 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. Among authors: abel hj. 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
Haplotype-resolved diverse human genomes and integrated analysis of structural variation.
Ebert P, Audano PA, Zhu Q, Rodriguez-Martin B, Porubsky D, Bonder MJ, Sulovari A, Ebler J, Zhou W, Serra Mari R, Yilmaz F, Zhao X, Hsieh P, Lee J, Kumar S, Lin J, Rausch T, Chen Y, Ren J, Santamarina M, Höps W, Ashraf H, Chuang NT, Yang X, Munson KM, Lewis AP, Fairley S, Tallon LJ, Clarke WE, Basile AO, Byrska-Bishop M, Corvelo A, Evani US, Lu TY, Chaisson MJP, Chen J, Li C, Brand H, Wenger AM, Ghareghani M, Harvey WT, Raeder B, Hasenfeld P, Regier AA, Abel HJ, Hall IM, Flicek P, Stegle O, Gerstein MB, Tubio JMC, Mu Z, Li YI, Shi X, Hastie AR, Ye K, Chong Z, Sanders AD, Zody MC, Talkowski ME, Mills RE, Devine SE, Lee C, Korbel JO, Marschall T, Eichler EE. Ebert P, et al. Among authors: abel hj. Science. 2021 Apr 2;372(6537):eabf7117. doi: 10.1126/science.abf7117. Epub 2021 Feb 25. Science. 2021. PMID: 33632895 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. Among authors: abel hj. 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. Hum Genomics. 2021 Jun 7;15(1):34. doi: 10.1186/s40246-021-00335-2. Hum Genomics. 2021. PMID: 34099068 Free PMC article.
63 results