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2000 1
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2012 1
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2015 6
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2017 2
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23 results

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Page 1
Population-specific genotype imputations using minimac or IMPUTE2.
van Leeuwen EM, Kanterakis A, Deelen P, Kattenberg MV; Genome of the Netherlands Consortium; Slagboom PE, de Bakker PI, Wijmenga C, Swertz MA, Boomsma DI, van Duijn CM, Karssen LC, Hottenga JJ. van Leeuwen EM, et al. Nat Protoc. 2015 Sep;10(9):1285-96. doi: 10.1038/nprot.2015.077. Epub 2015 Jul 30. Nat Protoc. 2015. PMID: 26226460
Skewed X-inactivation is common in the general female population.
Shvetsova E, Sofronova A, Monajemi R, Gagalova K, Draisma HHM, White SJ, Santen GWE, Chuva de Sousa Lopes SM, Heijmans BT, van Meurs J, Jansen R, Franke L, Kiełbasa SM, den Dunnen JT, 't Hoen PAC; BIOS consortium; GoNL consortium. Shvetsova E, et al. Eur J Hum Genet. 2019 Mar;27(3):455-465. doi: 10.1038/s41431-018-0291-3. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552425 Free PMC article.
Negative selection in humans and fruit flies involves synergistic epistasis.
Sohail M, Vakhrusheva OA, Sul JH, Pulit SL, Francioli LC; Genome of the Netherlands Consortium; Alzheimer’s Disease Neuroimaging Initiative; van den Berg LH, Veldink JH, de Bakker PIW, Bazykin GA, Kondrashov AS, Sunyaev SR. Sohail M, et al. Science. 2017 May 5;356(6337):539-542. doi: 10.1126/science.aah5238. Science. 2017. PMID: 28473589 Free PMC article.
Access Governance for Biobanks: The Case of the BioSHaRE-EU Cohorts.
Kaye J, Briceño Moraia L, Mitchell C, Bell J, Bovenberg JA, Tassé AM, Knoppers BM. Kaye J, et al. Among authors: bovenberg ja. Biopreserv Biobank. 2016 Jun;14(3):201-6. doi: 10.1089/bio.2015.0124. Epub 2016 May 16. Biopreserv Biobank. 2016. PMID: 27183185 Free PMC article.
Characteristics of de novo structural changes in the human genome.
Kloosterman WP, Francioli LC, Hormozdiari F, Marschall T, Hehir-Kwa JY, Abdellaoui A, Lameijer EW, Moed MH, Koval V, Renkens I, van Roosmalen MJ, Arp P, Karssen LC, Coe BP, Handsaker RE, Suchiman ED, Cuppen E, Thung DT, McVey M, Wendl MC; Genome of Netherlands Consortium; Uitterlinden A, van Duijn CM, Swertz MA, Wijmenga C, van Ommen GB, Slagboom PE, Boomsma DI, Schönhuth A, Eichler EE, de Bakker PI, Ye K, Guryev V. Kloosterman WP, et al. 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.
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.
Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates.
Palamara PF, Francioli LC, Wilton PR, Genovese G, Gusev A, Finucane HK, Sankararaman S; Genome of the Netherlands Consortium; Sunyaev SR, de Bakker PI, Wakeley J, Pe'er I, Price AL. Palamara PF, et al. Am J Hum Genet. 2015 Dec 3;97(6):775-89. doi: 10.1016/j.ajhg.2015.10.006. Epub 2015 Nov 12. Am J Hum Genet. 2015. PMID: 26581902 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.
23 results