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Page 1
Characteristics of de novo structural changes in the human genome.
Genome Res. 2015 Jun;25(6):792-801. doi: 10.1101/gr.185041.114. Epub 2015 Apr 16.
Genome Res. 2015.
PMID: 25883321
Free PMC article.
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.
Hehir-Kwa JY, Marschall T, Kloosterman WP, Francioli LC, Baaijens JA, Dijkstra LJ, Abdellaoui A, Koval V, Thung DT, Wardenaar R, Renkens I, Coe BP, Deelen P, de Ligt J, Lameijer EW, van Dijk F, Hormozdiari F; Genome of the Netherlands Consortium; Uitterlinden AG, van Duijn CM, Eichler EE, de Bakker PI, Swertz MA, Wijmenga C, van Ommen GB, Slagboom PE, Boomsma DI, Schönhuth A, Ye K, Guryev V.
Hehir-Kwa JY, et al.
Nat Commun. 2016 Oct 6;7:12989. doi: 10.1038/ncomms12989.
Nat Commun. 2016.
PMID: 27708267
Free PMC article.
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Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Douce JL; FREX Consortium; GoNL Consortium; Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute O, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V.
Kim A, et al.
Brain. 2019 Jan 1;142(1):35-49. doi: 10.1093/brain/awy290.
Brain. 2019.
PMID: 30508070
Free article.
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Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck.
Li M, Rothwell R, Vermaat M, Wachsmuth M, Schröder R, Laros JF, van Oven M, de Bakker PI, Bovenberg JA, van Duijn CM, van Ommen GJ, Slagboom PE, Swertz MA, Wijmenga C; Genome of Netherlands Consortium; Kayser M, Boomsma DI, Zöllner S, de Knijff P, Stoneking M.
Li M, et al.
Genome Res. 2016 Apr;26(4):417-26. doi: 10.1101/gr.203216.115. Epub 2016 Feb 25.
Genome Res. 2016.
PMID: 26916109
Free PMC article.
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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. Among authors: byelas g.
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.
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Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency.
Kiezun A, Pulit SL, Francioli LC, van Dijk F, Swertz M, Boomsma DI, van Duijn CM, Slagboom PE, van Ommen GJ, Wijmenga C; Genome of the Netherlands Consortium; de Bakker PI, Sunyaev SR.
Kiezun A, et al.
PLoS Genet. 2013;9(2):e1003301. doi: 10.1371/journal.pgen.1003301. Epub 2013 Feb 28.
PLoS Genet. 2013.
PMID: 23468643
Free PMC article.
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