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Relating enhancer genetic variation across mammals to complex phenotypes using machine learning.
Kaplow IM, Lawler AJ, Schäffer DE, Srinivasan C, Sestili HH, Wirthlin ME, Phan BN, Prasad K, Brown AR, Zhang X, Foley K, Genereux DP; Zoonomia Consortium**; Karlsson EK, Lindblad-Toh K, Meyer WK, Pfenning AR. Kaplow IM, et al. Among authors: karlsson ek. Science. 2023 Apr 28;380(6643):eabm7993. doi: 10.1126/science.abm7993. Epub 2023 Apr 28. Science. 2023. PMID: 37104615 Free PMC article.
A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs.
Olsson M, Meadows JR, Truvé K, Rosengren Pielberg G, Puppo F, Mauceli E, Quilez J, Tonomura N, Zanna G, Docampo MJ, Bassols A, Avery AC, Karlsson EK, Thomas A, Kastner DL, Bongcam-Rudloff E, Webster MT, Sanchez A, Hedhammar A, Remmers EF, Andersson L, Ferrer L, Tintle L, Lindblad-Toh K. Olsson M, et al. Among authors: karlsson ek. PLoS Genet. 2011 Mar;7(3):e1001332. doi: 10.1371/journal.pgen.1001332. Epub 2011 Mar 17. PLoS Genet. 2011. PMID: 21437276 Free PMC article.
Identifying recent adaptations in large-scale genomic data.
Grossman SR, Andersen KG, Shlyakhter I, Tabrizi S, Winnicki S, Yen A, Park DJ, Griesemer D, Karlsson EK, Wong SH, Cabili M, Adegbola RA, Bamezai RN, Hill AV, Vannberg FO, Rinn JL; 1000 Genomes Project; Lander ES, Schaffner SF, Sabeti PC. Grossman SR, et al. Among authors: karlsson ek. Cell. 2013 Feb 14;152(4):703-13. doi: 10.1016/j.cell.2013.01.035. Cell. 2013. PMID: 23415221 Free PMC article.
A simple repeat polymorphism in the MITF-M promoter is a key regulator of white spotting in dogs.
Baranowska Körberg I, Sundström E, Meadows JR, Rosengren Pielberg G, Gustafson U, Hedhammar Å, Karlsson EK, Seddon J, Söderberg A, Vilà C, Zhang X, Åkesson M, Lindblad-Toh K, Andersson G, Andersson L. Baranowska Körberg I, et al. Among authors: karlsson ek. PLoS One. 2014 Aug 12;9(8):e104363. doi: 10.1371/journal.pone.0104363. eCollection 2014. PLoS One. 2014. PMID: 25116146 Free PMC article.
Genome-wide association study identifies shared risk loci common to two malignancies in golden retrievers.
Tonomura N, Elvers I, Thomas R, Megquier K, Turner-Maier J, Howald C, Sarver AL, Swofford R, Frantz AM, Ito D, Mauceli E, Arendt M, Noh HJ, Koltookian M, Biagi T, Fryc S, Williams C, Avery AC, Kim JH, Barber L, Burgess K, Lander ES, Karlsson EK, Azuma C, Modiano JF, Breen M, Lindblad-Toh K. Tonomura N, et al. Among authors: karlsson ek. PLoS Genet. 2015 Feb 2;11(2):e1004922. doi: 10.1371/journal.pgen.1004922. eCollection 2015 Feb. PLoS Genet. 2015. PMID: 25642983 Free PMC article.
A genetic basis of variation in eccrine sweat gland and hair follicle density.
Kamberov YG, Karlsson EK, Kamberova GL, Lieberman DE, Sabeti PC, Morgan BA, Tabin CJ. Kamberov YG, et al. Among authors: karlsson ek. Proc Natl Acad Sci U S A. 2015 Aug 11;112(32):9932-7. doi: 10.1073/pnas.1511680112. Epub 2015 Jul 20. Proc Natl Acad Sci U S A. 2015. PMID: 26195765 Free PMC article.
Integrating evolutionary and regulatory information with a multispecies approach implicates genes and pathways in obsessive-compulsive disorder.
Noh HJ, Tang R, Flannick J, O'Dushlaine C, Swofford R, Howrigan D, Genereux DP, Johnson J, van Grootheest G, Grünblatt E, Andersson E, Djurfeldt DR, Patel PD, Koltookian M, M Hultman C, Pato MT, Pato CN, Rasmussen SA, Jenike MA, Hanna GL, Stewart SE, Knowles JA, Ruhrmann S, Grabe HJ, Wagner M, Rück C, Mathews CA, Walitza S, Cath DC, Feng G, Karlsson EK, Lindblad-Toh K. Noh HJ, et al. Among authors: karlsson ek. Nat Commun. 2017 Oct 17;8(1):774. doi: 10.1038/s41467-017-00831-x. Nat Commun. 2017. PMID: 29042551 Free PMC article.
100 results