shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores.

Autor: Kelemen M; Wellcome Sanger Institute, Hinxton, Cambridgeshire, UK; Cambridge Institute of Therapeutic Immunology & Infectious Disease, University of Cambridge, Cambridge, UK. Electronic address: mk907@cam.ac.uk., Vigorito E; MRC Biostatistics Unit, University of Cambridge, Cambridge, UK., Fachal L; Wellcome Sanger Institute, Hinxton, Cambridgeshire, UK., Anderson CA; Wellcome Sanger Institute, Hinxton, Cambridgeshire, UK., Wallace C; Cambridge Institute of Therapeutic Immunology & Infectious Disease, University of Cambridge, Cambridge, UK; MRC Biostatistics Unit, University of Cambridge, Cambridge, UK.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 1006-1017. Date of Electronic Publication: 2024 May 03.

RápidoPGS: a rapid polygenic score calculator for summary GWAS data without a test dataset.

Autor: Reales G; Cambridge Institute of Therapeutic Immunology & Infectious Disease (CITIID), Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge, Cambridge CB2 0AW, UK.; Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge CB2 2QQ, UK., Vigorito E; MRC Biostatistics Unit, University of Cambridge, School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge CB2 0SR, UK., Kelemen M; Cambridge Institute of Therapeutic Immunology & Infectious Disease (CITIID), Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge, Cambridge CB2 0AW, UK.; Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1RQ, UK., Wallace C; Cambridge Institute of Therapeutic Immunology & Infectious Disease (CITIID), Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge, Cambridge CB2 0AW, UK.; Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge CB2 2QQ, UK.; MRC Biostatistics Unit, University of Cambridge, School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge CB2 0SR, UK.

Publikováno v: Bioinformatics (Oxford, England) [Bioinformatics] 2021 Dec 07; Vol. 37 (23), pp. 4444-4450.

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Autor: Pfeiler, G, Vigorito, E, Kuchenbaecker, KB, Beesley, J, Adlard, J, Agnarsson, BA, Andrulis, IL, Arun, BK, Barjhoux, L, Belotti, M, Benitez, J, Berger, A, Phelan, CM, Piedmonte, M, Poppe, B, Pujana, MA, Radice, P, Rennert, G, Rodriguez, GC, Rookus, MA, Ross, EA, Bojesen, A, Schmutzler, RK, Simard, J, Singer, CF, Slavin, TP, Soucy, P, Southey, M, Steinemann, D, Stoppa-Lyonnet, D, Sukiennicki, G, Sutter, C, Bonanni, B, Szabo, CI, Tea, MK, Teixeira, MR, Teo, SH, Terry, MB, Thomassen, M, Tibiletti, MG, Tihomirova, L, Tognazzo, S, van Rensburg, EJ, Brewer, C, Varesco, L, Varon-Mateeva, R, Vratimos, A, Weitzel, JN, McGuffog, L, Kirk, J, Toland, AE, Hamann, U, Lindor, N, Ramus, SJ, Caldes, T, Greene, MH, Couch, FJ, Offit, K, Pharoah, PDP, Chenevix-Trench, G, Antoniou, AC, Prokunina-Olsson, L, Caligo, MA, Campbell, I, Chan, SB, Claes, KBM, Cohn, DE, Cook, J, Daly, MB, Damiola, F, Davidson, R, Pauw, AD, Delnatte, C, Diez, O, Domchek, SM, Dumont, M, Durda, K, Dworniczak, B, Easton, DF, Eccles, D, Edwinsdotter Ardnor, C, Eeles, R, Ejlertsen, B, Ellis, S, Evans, G, Feliubadalo, L, Fostira, F, Foulkes, WD, Friedman, E, Frost, D, Gaddam, P, Ganz, PA, Garber, J, Garcia-Barberan, V, Gauthier-Villars, M, Gehrig, A, Gerdes, AM, Giraud, S, Godwin, AK, Goldgar, DE, Hake, CR, Hansen, TVO, Healey, S, Hodgson, S, Hogervorst, FBL, Houdayer, C, Hulick, PJ, Imyanitov, EN, Isaacs, C, Izatt, L, Izquierdo, A, Jacobs, L, Jakubowska, A, Janavicius, R, Jaworska-Bieniek, K, Jensen, UB, John, EM, Vijai, J, Karlan, BY, Kast, K, Investigators, K, Khan, S, Kwong, A, Laitman, Y, Lester, J, Lesueur, F, Liljegren, A, Lubinski, J, Mai, PL, Manoukian, S, Mazoyer, S, Meindl, A, Mensenkamp, AR, Montagna, M, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Niederacher, D, Olah, E, Olopade, OI, Ong, KR, Osorio, A, Park, SK, Paulsson-Karlsson, Y, Pedersen, IS, Peissel, B, Peterlongo, P

Publikováno v: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona

Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6c9d8e45b54b76540dfebb79122ffc8f
https://ddd.uab.cat/record/254191

Detection of quantitative trait loci from RNA-seq data with or without genotypes using BaseQTL.

Autor: Vigorito E; MRC Biostatistics Unit, University of Cambridge, Cambridge, UK., Lin WY; MRC Biostatistics Unit, University of Cambridge, Cambridge, UK., Starr C; MRC Biostatistics Unit, University of Cambridge, Cambridge, UK., Kirk PDW; MRC Biostatistics Unit, University of Cambridge, Cambridge, UK.; Cambridge Institute of Therapeutic Immunology and Infectious Disease (CITIID), Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge, Cambridge, UK., White SR; MRC Biostatistics Unit, University of Cambridge, Cambridge, UK.; Department of Psychiatry, University of Cambridge, Cambridge, UK., Wallace C; MRC Biostatistics Unit, University of Cambridge, Cambridge, UK.; Cambridge Institute of Therapeutic Immunology and Infectious Disease (CITIID), Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge, Cambridge, UK.

Publikováno v: Nature computational science [Nat Comput Sci] 2021 Jun; Vol. 1, pp. 421-432. Date of Electronic Publication: 2021 Jun 24.

The roles and mechanisms of miRNA in HBV-HCC carcinogenesis: Why no therapeutic agents after 30 years?

Autor: SARTORIUS, KURT^1,2,3 (AUTHOR) kurt.sartorius@wits.ac.za, SARTORIUS, BENN⁴ (AUTHOR), WINKLER, CHERIE⁵ (AUTHOR), CHUTURGOON, ANIL² (AUTHOR), KRAMVIS, ANNA¹ (AUTHOR), AN, PING⁵ (AUTHOR), ZHANG, WEIGANG⁶ (AUTHOR), LU, YUNJIE^3,6,7 (AUTHOR) yj0001@suda.edu.cn

Publikováno v: Biocell. 2024, Vol. 48 Issue 11, p1543-1567. 25p.