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The landscape of genomic imprinting across diverse adult human tissues.
Baran Y, Subramaniam M, Biton A, Tukiainen T, Tsang EK, Rivas MA, Pirinen M, Gutierrez-Arcelus M, Smith KS, Kukurba KR, Zhang R, Eng C, Torgerson DG, Urbanek C; GTEx Consortium; Li JB, Rodriguez-Santana JR, Burchard EG, Seibold MA, MacArthur DG, Montgomery SB, Zaitlen NA, Lappalainen T. Baran Y, et al. Among authors: lappalainen t. Genome Res. 2015 Jul;25(7):927-36. doi: 10.1101/gr.192278.115. Epub 2015 May 7. Genome Res. 2015. PMID: 25953952 Free PMC article.
Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens.
Morris JA, Caragine C, Daniloski Z, Domingo J, Barry T, Lu L, Davis K, Ziosi M, Glinos DA, Hao S, Mimitou EP, Smibert P, Roeder K, Katsevich E, Lappalainen T, Sanjana NE. Morris JA, et al. Among authors: lappalainen t. Science. 2023 May 19;380(6646):eadh7699. doi: 10.1126/science.adh7699. Epub 2023 May 19. Science. 2023. PMID: 37141313 Free PMC article.
The variant call format and VCFtools.
Danecek P, Auton A, Abecasis G, Albers CA, Banks E, DePristo MA, Handsaker RE, Lunter G, Marth GT, Sherry ST, McVean G, Durbin R; 1000 Genomes Project Analysis Group. Danecek P, et al. Bioinformatics. 2011 Aug 1;27(15):2156-8. doi: 10.1093/bioinformatics/btr330. Epub 2011 Jun 7. Bioinformatics. 2011. PMID: 21653522 Free PMC article.
Sex-biased genetic effects on gene regulation in humans.
Dimas AS, Nica AC, Montgomery SB, Stranger BE, Raj T, Buil A, Giger T, Lappalainen T, Gutierrez-Arcelus M; MuTHER Consortium; McCarthy MI, Dermitzakis ET. Dimas AS, et al. Among authors: lappalainen t. Genome Res. 2012 Dec;22(12):2368-75. doi: 10.1101/gr.134981.111. Epub 2012 Sep 7. Genome Res. 2012. PMID: 22960374 Free PMC article.
An integrated map of genetic variation from 1,092 human genomes.
1000 Genomes Project Consortium; Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. 1000 Genomes Project Consortium, et al. Nature. 2012 Nov 1;491(7422):56-65. doi: 10.1038/nature11632. Nature. 2012. PMID: 23128226 Free PMC article.
140 results