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Items: 11

1.

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.

Science. 2017 May 5;356(6337):539-542. doi: 10.1126/science.aah5238.

2.

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.

Eur J Hum Genet. 2017 Feb;25(2):227-233. doi: 10.1038/ejhg.2016.147. Epub 2016 Nov 23.

3.

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.

Nat Commun. 2016 Oct 6;7:12989. doi: 10.1038/ncomms12989.

4.

Uncompromised 10-year survival of oldest old carrying somatic mutations in DNMT3A and TET2.

van den Akker EB, Pitts SJ, Deelen J, Moed MH, Potluri S, van Rooij J, Suchiman HE, Lakenberg N, de Dijcker WJ, Uitterlinden AG, Kraaij R, Hofman A, de Craen AJ, Houwing-Duistermaat JJ, van Ommen GJ; Genome of The Netherlands Consortium, Cox DR, van Meurs JB, Beekman M, Reinders MJ, Slagboom PE.

Blood. 2016 Mar 17;127(11):1512-5. doi: 10.1182/blood-2015-12-685925. Epub 2016 Jan 29. No abstract available.

5.

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.

Am J Hum Genet. 2015 Dec 3;97(6):775-89. doi: 10.1016/j.ajhg.2015.10.006. Epub 2015 Nov 12.

6.

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.

Nat Protoc. 2015 Sep;10(9):1285-96. doi: 10.1038/nprot.2015.077. Epub 2015 Jul 30.

PMID:
26226460
7.

Heritability, SNP- and Gene-Based Analyses of Cannabis Use Initiation and Age at Onset.

Minică CC, Dolan CV, Hottenga JJ, Pool R; Genome of the Netherlands Consortium, Fedko IO, Mbarek H, Huppertz C, Bartels M, Boomsma DI, Vink JM.

Behav Genet. 2015 Sep;45(5):503-13. doi: 10.1007/s10519-015-9723-9. Epub 2015 May 19.

8.

Genome-wide patterns and properties of de novo mutations in humans.

Francioli LC, Polak PP, Koren A, Menelaou A, Chun S, Renkens I; Genome of the Netherlands Consortium, van Duijn CM, Swertz M, Wijmenga C, van Ommen G, Slagboom PE, Boomsma DI, Ye K, Guryev V, Arndt PF, Kloosterman WP, de Bakker PIW, Sunyaev SR.

Nat Genet. 2015 Jul;47(7):822-826. doi: 10.1038/ng.3292. Epub 2015 May 18.

9.

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.

Nat Commun. 2015 Mar 9;6:6065. doi: 10.1038/ncomms7065.

10.

Whole-genome sequence variation, population structure and demographic history of the Dutch population.

Genome of the Netherlands Consortium.

Nat Genet. 2014 Aug;46(8):818-25. doi: 10.1038/ng.3021. Epub 2014 Jun 29.

PMID:
24974849
11.

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.

PLoS Genet. 2013;9(2):e1003301. doi: 10.1371/journal.pgen.1003301. Epub 2013 Feb 28.

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