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Page 1
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: byelas h. BMC Res Notes. 2015 Aug 19;8:359. doi: 10.1186/s13104-015-1309-3. BMC Res Notes. 2015. PMID: 26286716 Free PMC article.
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
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.
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.
The Genome of the Netherlands: design, and project goals.
Boomsma DI, Wijmenga C, Slagboom EP, Swertz MA, Karssen LC, Abdellaoui A, Ye K, Guryev V, Vermaat M, van Dijk F, Francioli LC, Hottenga JJ, Laros JF, Li Q, Li Y, Cao H, Chen R, Du Y, Li N, Cao S, van Setten J, Menelaou A, Pulit SL, Hehir-Kwa JY, Beekman M, Elbers CC, Byelas H, de Craen AJ, Deelen P, Dijkstra M, den Dunnen JT, de Knijff P, Houwing-Duistermaat J, Koval V, Estrada K, Hofman A, Kanterakis A, Enckevort Dv, Mai H, Kattenberg M, van Leeuwen EM, Neerincx PB, Oostra B, Rivadeneira F, Suchiman EH, Uitterlinden AG, Willemsen G, Wolffenbuttel BH, Wang J, de Bakker PI, van Ommen GJ, van Duijn CM. Boomsma DI, et al. Among authors: byelas h. Eur J Hum Genet. 2014 Feb;22(2):221-7. doi: 10.1038/ejhg.2013.118. Epub 2013 May 29. Eur J Hum Genet. 2014. PMID: 23714750 Free PMC 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.
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. Nat Commun. 2015 Mar 9;6:6065. doi: 10.1038/ncomms7065. Nat Commun. 2015. PMID: 25751400 Free PMC article.
A framework for the detection of de novo mutations in family-based sequencing data.
Francioli LC, Cretu-Stancu M, Garimella KV, Fromer M, Kloosterman WP; Genome of the Netherlands consortium; Samocha KE, Neale BM, Daly MJ, Banks E, DePristo MA, de Bakker PI. Francioli LC, et al. Eur J Hum Genet. 2017 Feb;25(2):227-233. doi: 10.1038/ejhg.2016.147. Epub 2016 Nov 23. Eur J Hum Genet. 2017. PMID: 27876817 Free PMC article.
12 results