Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of the Netherlands'

European Journal of Human Genetics

Volumn 22, Issue 11, 2014, Pages 1321-1326

  Deelen, Patrick ^a   Menelaou, Androniki ^b   Van Leeuwen, Elisabeth M ^c   Kanterakis, Alexandros ^a   Van Dijk, Freerk ^a   Medina Gomez, Carolina ^c,d   Francioli, Laurent C ^b   Hottenga, Jouke Jan ^e   Karssen, Lennart C ^c   Estrada, Karol ^c,f,g   Kreiner Møller, Eskil ^c,h   Rivadeneira, Fernando ^c,d   Van Setten, Jessica ^b   Gutierrez Achury, Javier ^a   Westra, Harm Jan ^a   Franke, Lude ^a   Van Enckevort, David ^a,i   Dijkstra, Martijn ^a   Byelas, Heorhiy ^a   Van Duijn, Cornelia M ^c   De Bakker, Paul I W ^b,g,j   Wijmenga, Cisca ^a   Swertz, Morris A ^a   more..

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d Netherlands Genomics Initiative   (Netherlands)

^e VU UNIVERSITY AMSTERDAM   (Netherlands)

^f MASSACHUSETTS GENERAL HOSPITAL   (United States)

^g HARVARD MEDICAL SCHOOL   (United States)

^h UNIVERSITY OF COPENHAGEN   (Denmark)

ⁱ NETHERLANDS BIOINFORMATICS CENTRE   (Netherlands)

^j BROAD INSTITUTE OF MIT AND HARVARD   (United States)

more..

Author keywords

genotype imputation; GoNL; GWAS; rare variants; reference panel; reference sets

Indexed keywords

ACCURACY; ARTICLE; CONTROLLED STUDY; EUROPEAN; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC DATABASE; GENETIC VARIABILITY; GENOTYPE; GOLD STANDARD; HUMAN; HUMAN GENOME PROJECT; NETHERLANDS; POPULATION GENETICS; QUALITY CONTROL; REFERENCE DATABASE; SAMPLE;

EID: 84908551473     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.19     Document Type: Article

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