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Page 1
Integrative annotation of variants from 1092 humans: application to cancer genomics.
Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüş ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GRS, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F; 1000 Genomes Project Consortium; Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M. Khurana E, et al. Among authors: colonna v. Science. 2013 Oct 4;342(6154):1235587. doi: 10.1126/science.1235587. Science. 2013. PMID: 24092746 Free PMC article.
Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences.
Colonna V, Ayub Q, Chen Y, Pagani L, Luisi P, Pybus M, Garrison E, Xue Y, Tyler-Smith C; 1000 Genomes Project Consortium; Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. Colonna V, et al. Genome Biol. 2014 Jun 30;15(6):R88. doi: 10.1186/gb-2014-15-6-r88. Genome Biol. 2014. PMID: 24980144 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.
A global reference for human genetic variation.
1000 Genomes Project Consortium; Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR. 1000 Genomes Project Consortium, et al. Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393. Nature. 2015. PMID: 26432245 Free PMC article.
Isonymy structure of Buenos Aires city.
Bronberg RA, Dipierri JE, Alfaro EL, Barrai I, Rodríguez-Larralde A, Castilla EE, Colonna V, Rodríguez-Arroyo G, Bailliet G. Bronberg RA, et al. Among authors: colonna v. Hum Biol. 2009 Aug;81(4):447-61. doi: 10.3378/027.081.0404. Hum Biol. 2009. PMID: 20067369
Predictive medicine in a testis trio-family through a combined multi-omics approach.
Di Maggio F, Damaggio G, Nunziato M, Buonaiuto S, Crocetto F, Calabrese A, Aveta A, Vino G, Donvito G, Pandolfo SD, Imbimbo C, Colonna V, Salvatore F. Di Maggio F, et al. Among authors: colonna v. Clin Transl Med. 2024 Apr;14(4):e1643. doi: 10.1002/ctm2.1643. Clin Transl Med. 2024. PMID: 38616705 Free PMC article. No abstract available.
A revamped rat reference genome improves the discovery of genetic diversity in laboratory rats.
de Jong TV, Pan Y, Rastas P, Munro D, Tutaj M, Akil H, Benner C, Chen D, Chitre AS, Chow W, Colonna V, Dalgard CL, Demos WM, Doris PA, Garrison E, Geurts AM, Gunturkun HM, Guryev V, Hourlier T, Howe K, Huang J, Kalbfleisch T, Kim P, Li L, Mahaffey S, Martin FJ, Mohammadi P, Ozel AB, Polesskaya O, Pravenec M, Prins P, Sebat J, Smith JR, Solberg Woods LC, Tabakoff B, Tracey A, Uliano-Silva M, Villani F, Wang H, Sharp BM, Telese F, Jiang Z, Saba L, Wang X, Murphy TD, Palmer AA, Kwitek AE, Dwinell MR, Williams RW, Li JZ, Chen H. de Jong TV, et al. Among authors: colonna v. Cell Genom. 2024 Apr 10;4(4):100527. doi: 10.1016/j.xgen.2024.100527. Epub 2024 Mar 26. Cell Genom. 2024. PMID: 38537634 Free PMC article.
A comprehensive analysis of SARS-CoV-2 missense mutations indicates that all possible amino acid replacements in the viral proteins occurred within the first two-and-a-half years of the pandemic.
Balasco N, Damaggio G, Esposito L, Colonna V, Vitagliano L. Balasco N, et al. Among authors: colonna v. Int J Biol Macromol. 2024 May;266(Pt 1):131054. doi: 10.1016/j.ijbiomac.2024.131054. Epub 2024 Mar 24. Int J Biol Macromol. 2024. PMID: 38522702 Free article.
89 results