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Page 1
XGAP: a uniform and extensible data model and software platform for genotype and phenotype experiments.
Swertz MA, Velde KJ, Tesson BM, Scheltema RA, Arends D, Vera G, Alberts R, Dijkstra M, Schofield P, Schughart K, Hancock JM, Smedley D, Wolstencroft K, Goble C, de Brock EO, Jones AR, Parkinson HE; Coordination of Mouse Informatics Resources (CASIMIR); Genotype-To-Phenotype (GEN2PHEN) Consortiums; Jansen RC. Swertz MA, et al. Genome Biol. 2010;11(3):R27. doi: 10.1186/gb-2010-11-3-r27. Epub 2010 Mar 9. Genome Biol. 2010. PMID: 20214801 Free PMC article.
The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button.
Swertz MA, Dijkstra M, Adamusiak T, van der Velde JK, Kanterakis A, Roos ET, Lops J, Thorisson GA, Arends D, Byelas G, Muilu J, Brookes AJ, de Brock EO, Jansen RC, Parkinson H. Swertz MA, et al. BMC Bioinformatics. 2010 Dec 21;11 Suppl 12(Suppl 12):S12. doi: 10.1186/1471-2105-11-S12-S12. BMC Bioinformatics. 2010. PMID: 21210979 Free PMC article.
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, den Dunnen WF, van Dijk F, Verschuuren-Bemelmans C, Hageman G, van de Vlies P, Küsters B, van de Warrenburg BP, Kremer B, Wijmenga C, Sinke RJ, Swertz MA, Kampinga HH, Boddeke E, Verbeek DS. Duarri A, et al. Among authors: swertz ma. Ann Neurol. 2012 Dec;72(6):870-80. doi: 10.1002/ana.23700. Ann Neurol. 2012. PMID: 23280838
Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.
van Leeuwen EM, Karssen LC, Deelen J, Isaacs A, Medina-Gomez C, Mbarek H, Kanterakis A, Trompet S, Postmus I, Verweij N, van Enckevort DJ, Huffman JE, White CC, Feitosa MF, Bartz TM, Manichaikul A, Joshi PK, Peloso GM, Deelen P, van Dijk F, Willemsen G, de Geus EJ, Milaneschi Y, Penninx BW, Francioli LC, Menelaou A, Pulit SL, Rivadeneira F, Hofman A, Oostra BA, Franco OH, Mateo Leach I, Beekman M, de Craen AJ, Uh HW, Trochet H, Hocking LJ, Porteous DJ, Sattar N, Packard CJ, Buckley BM, Brody JA, Bis JC, Rotter JI, Mychaleckyj JC, Campbell H, Duan Q, Lange LA, Wilson JF, Hayward C, Polasek O, Vitart V, Rudan I, Wright AF, Rich SS, Psaty BM, Borecki IB, Kearney PM, Stott DJ, Adrienne Cupples L; Genome of The Netherlands Consortium; Jukema JW, van der Harst P, Sijbrands EJ, Hottenga JJ, Uitterlinden AG, Swertz MA, van Ommen GJ, de Bakker PI, Eline Slagboom P, Boomsma DI, Wijmenga C, van Duijn CM. van Leeuwen EM, et al. Among authors: swertz ma. Nat Commun. 2015 Mar 9;6:6065. doi: 10.1038/ncomms7065. Nat Commun. 2015. PMID: 25751400 Free PMC article.
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
van der Velde KJ, Kuiper J, Thompson BA, Plazzer JP, van Valkenhoef G, de Haan M, Jongbloed JD, Wijmenga C, de Koning TJ, Abbott KM, Sinke R, Spurdle AB, Macrae F, Genuardi M, Sijmons RH, Swertz MA; InSiGHT Group. van der Velde KJ, et al. Among authors: swertz ma. Hum Mutat. 2015 Jul;36(7):712-9. doi: 10.1002/humu.22798. Epub 2015 May 20. Hum Mutat. 2015. PMID: 25871441 Free PMC article.
Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels.
Deelen P, Zhernakova DV, de Haan M, van der Sijde M, Bonder MJ, Karjalainen J, van der Velde KJ, Abbott KM, Fu J, Wijmenga C, Sinke RJ, Swertz MA, Franke L. Deelen P, et al. Among authors: swertz ma. Genome Med. 2015 Mar 27;7(1):30. doi: 10.1186/s13073-015-0152-4. eCollection 2015. Genome Med. 2015. PMID: 25954321 Free PMC article.
Molgenis-impute: imputation pipeline in a box.
Kanterakis A, Deelen P, van Dijk F, Byelas H, Dijkstra M, Swertz MA. Kanterakis A, et al. Among authors: swertz ma. BMC Res Notes. 2015 Aug 19;8:359. doi: 10.1186/s13104-015-1309-3. BMC Res Notes. 2015. PMID: 26286716 Free PMC article.
238 results