Details

Autor(en) / Beteiligte

• Francioli, Laurent C
• Menelaou, Androniki
• Pulit, Sara L
• van Dijk, Feerk
• Palamara, Pier Francesco
• Elbers, Clara C
• Neerincx, Pieter B T
• Ye, Kai
• Guryev, Victor
• Kloosterman, Wigard P
• Deelen, Patrick
• Abdellaoui, Abdel
• van Leeuwen, Elisabeth M
• van Oven, Mannis
• Vermaat, Martijn
• Li, Mingkun
• Laros, Jeroen F J
• Karssen, Lennart C
• Kanterakis, Alexandros
• Amin, Najaf
• Hottenga, Jouke Jan
• Lameijer, Eric-Wubbo
• Kattenberg, Mathijs
• Dijkstra, Martijn
• Byelas, Heorhiy
• van Setten, Jessica
• van Schaik, Barbera D C
• Bot, Jan
• Nijman, Isaäc J
• Renkens, Ivo
• Marschall, Tobias
• Schönhuth, Alexander
• Hehir-Kwa, Jayne Y
• Handsaker, Robert E
• Polak, Paz
• Sohail, Mashaal
• Vuzman, Dana
• Hormozdiari, Fereydoun
• van Enckevort, David
• Mei, Hailiang
• Koval, Vyacheslav
• Moed, Matthijs H
• van der Velde, K Joeri
• Rivadeneira, Fernando
• Estrada, Karol
• Medina-Gomez, Carolina
• Isaacs, Aaron
• McCarroll, Steven A
• Beekman, Marian
• de Craen, Anton J M
• Suchiman, H Eka D
• Hofman, Albert
• Oostra, Ben
• Uitterlinden, André G
• Willemsen, Gonneke
• Platteel, Mathieu
• Veldink, Jan H
• van den Berg, Leonard H
• Pitts, Steven J
• Potluri, Shobha
• Sundar, Purnima
• Cox, David R
• Sunyaev, Shamil R
• den Dunnen, Johan T
• Stoneking, Mark
• de Knijff, Peter
• Kayser, Manfred
• Li, Qibin
• Li, Yingrui
• Du, Yuanping
• Chen, Ruoyan
• Cao, Hongzhi
• Li, Ning
• Cao, Sujie
• Wang, Jun
• Bovenberg, Jasper A
• Pe'er, Itsik
• Slagboom, P Eline
• van Duijn, Cornelia M
• Boomsma, Dorret I
• van Ommen, Gert-Jan B
• de Bakker, Paul I W
• Swertz, Morris A
• Wijmenga, Cisca

Titel

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

Ist Teil von

• Nature genetics, 2014-08, Vol.46 (8), p.818-825

Ort / Verlag

New York: Nature Publishing Group US

Erscheinungsjahr

2014

Quelle

MEDLINE

Beschreibungen/Notizen

• Paul de Bakker, Cisca Wijmenga and colleagues report on The Genome of the Netherlands Project, including whole-genome sequencing of 769 individuals of Dutch ancestry from 250 parent-offspring families and construction of a phased haplotype map. Their intermediate-coverage population sequencing data set provides a complementary resource to other publicly available data sets, including the 1000 Genomes Project. Whole-genome sequencing enables complete characterization of genetic variation, but geographic clustering of rare alleles demands many diverse populations be studied. Here we describe the Genome of the Netherlands (GoNL) Project, in which we sequenced the whole genomes of 250 Dutch parent-offspring families and constructed a haplotype map of 20.4 million single-nucleotide variants and 1.2 million insertions and deletions. The intermediate coverage (∼13×) and trio design enabled extensive characterization of structural variation, including midsize events (30–500 bp) previously poorly catalogued and de novo mutations. We demonstrate that the quality of the haplotypes boosts imputation accuracy in independent samples, especially for lower frequency alleles. Population genetic analyses demonstrate fine-scale structure across the country and support multiple ancient migrations, consistent with historical changes in sea level and flooding. The GoNL Project illustrates how single-population whole-genome sequencing can provide detailed characterization of genetic variation and may guide the design of future population studies.