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Page 1
FAIR Data Cube, a FAIR data infrastructure for integrated multi-omics data analysis.
Liao X, Ederveen THA, Niehues A, de Visser C, Huang J, Badmus F, Doornbos C, Orlova Y, Kulkarni P, van der Velde KJ, Swertz MA, Brandt M, van Gool AJ, 't Hoen PAC. Liao X, et al. Among authors: swertz ma. J Biomed Semantics. 2024 Dec 28;15(1):20. doi: 10.1186/s13326-024-00321-2. J Biomed Semantics. 2024. PMID: 39732721 Free PMC article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Among authors: swertz ma. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Metadata for Data dIscoverability aNd Study rEplicability in obseRVAtional Studies (MINERVA): Development and Pilot of a Metadata List and Catalogue in Europe.
Pajouheshnia R, Gini R, Gutierrez L, Swertz MA, Hyde E, Sturkenboom M, Arana A, Franzoni C, Ehrenstein V, Roberto G, Gil M, Maciá MA, Schäfer W, Haug U, Thurin NH, Lassalle R, Droz-Perroteau C, Zaccagnino S, Busto MP, Middelkoop B, Gembert K, Sanchez-Saez F, Rodriguez-Bernal C, Sanfélix-Gimeno G, Hurtado I, Acosta MB, Poblador-Plou B, Carmona-Pírez J, Gimeno-Miguel A, Prados-Torres A, Schultze A, Jansen E, Herings R, Kuiper J, Locatelli I, Jazbar J, Žerovnik Š, Kos M, Smit S, Lind S, Metspalu A, Simou S, Hedenmalm K, Cochino A, Alcini P, Kurz X, Perez-Gutthann S. Pajouheshnia R, et al. Among authors: swertz ma. Pharmacoepidemiol Drug Saf. 2024 Aug;33(8):e5871. doi: 10.1002/pds.5871. Pharmacoepidemiol Drug Saf. 2024. PMID: 39145406
Metadata for Data dIscoverability aNd Study rEplicability in obseRVAtional Studies (MINERVA): Lessons Learnt From the MINERVA Project in Europe.
Gini R, Pajouheshnia R, Gutierrez L, Swertz MA, Hyde E, Sturkenboom M, Arana A, Franzoni C, Ehrenstein V, Roberto G, Gil M, Maciá MA, Schäfer W, Haug U, Thurin NH, Lassalle R, Droz-Perroteau C, Zaccagnino S, Busto MP, Middelkoop B, Gembert K, Sanchez-Saez F, Rodriguez-Bernal C, Sanfélix-Gimeno G, Hurtado I, Acosta MB, Poblador-Plou B, Carmona-Pírez J, Gimeno-Miguel A, Prados-Torres A, Schultze A, Jansen E, Herings R, Kuiper J, Locatelli I, Jazbar J, Žerovnik Š, Kos M, Smit S, Lind S, Metspalu A, Simou S, Hedenmalm K, Cochino A, Alcini P, Kurz X, Perez-Gutthann S. Gini R, et al. Among authors: swertz ma. Pharmacoepidemiol Drug Saf. 2024 Aug;33(8):e5884. doi: 10.1002/pds.5884. Pharmacoepidemiol Drug Saf. 2024. PMID: 39145403 No abstract available.
Genome-wide Studies Reveal Genetic Risk Factors for Hepatic Fat Content.
Li Y, van den Berg EH, Kurilshikov A, Zhernakova DV, Gacesa R, Hu S, Lopera-Maya EA, Zhernakova A; Lifelines Cohort Study; de Meijer VE, Sanna S, Dullaart RPF, Blokzijl H, Festen EAM, Fu J, Weersma RK. Li Y, et al. Genomics Proteomics Bioinformatics. 2024 Jul 3;22(2):qzae031. doi: 10.1093/gpbjnl/qzae031. Genomics Proteomics Bioinformatics. 2024. PMID: 39142818 Free article.
Multi-ancestry polygenic risk scores for venous thromboembolism.
Jee YH, Thibord F, Dominguez A, Sept C, Boulier K, Venkateswaran V, Ding Y, Cherlin T, Verma SS, Faro VL, Bartz TM, Boland A, Brody JA, Deleuze JF, Emmerich J, Germain M, Johnson AD, Kooperberg C, Morange PE, Pankratz N, Psaty BM, Reiner AP, Smadja DM, Sitlani CM, Suchon P, Tang W, Trégouët DA, Zöllner S, Pasaniuc B, Damrauer SM, Sanna S, Snieder H; Lifelines Cohort Study; Kabrhel C, Smith NL, Kraft P; INVENT Consortium. Jee YH, et al. Hum Mol Genet. 2024 Sep 3;33(18):1584-1591. doi: 10.1093/hmg/ddae097. Hum Mol Genet. 2024. PMID: 38879759
Stress and anxiety during pregnancy and length of gestation: a federated study using data from five Canadian and European birth cohorts.
Bergeron J, Avraam D, Calas L, Fraser W, Harris JR, Heude B, Mandhane P, Moraes TJ, Muckle G, Nader J, Séguin JR, Simons E, Subbarao P, Swertz MA, Tough S, Turvey SE, Fortier I, Rod NH, Andersen AN. Bergeron J, et al. Among authors: swertz ma. Eur J Epidemiol. 2024 Jul;39(7):773-783. doi: 10.1007/s10654-024-01126-4. Epub 2024 May 28. Eur J Epidemiol. 2024. PMID: 38805076 Free PMC article.
207 results