A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

Nature Communications

Volumn 7, Issue , 2016, Pages

  Hehir Kwa, Jayne Y ^a   Marschall, Tobias ^b,c   Kloosterman, Wigard P ^d   Francioli, Laurent C ^d,e,f,g   Baaijens, Jasmijn A ^h   Dijkstra, Louis J ^h   Abdellaoui, Abdel ⁱ   Koval, Vyacheslav ^j   Thung, Djie Tjwan ^a   Wardenaar, René ^k,l   Renkens, Ivo ^d   Coe, Bradley P ^m   Deelen, Patrick ^k   De Ligt, Joep ^d   Lameijer, Eric Wubbo ⁿ   Van Dijk, Freerk ^k   Hormozdiari, Fereydoun ^m   Uitterlinden, André G ^j   Van Duijn, Cornelia M ^j   Eichler, Evan E ^m   De Bakker, Paul I W ^d   Swertz, Morris A ^k   Wijmenga, Cisca ^k   Van Ommen, Gert Jan B ⁿ   Slagboom, P Eline ⁿ   Boomsma, Dorret I ⁱ   Schönhuth, Alexander ^h   Ye, Kai ^o,p   Guryev, Victor ^k   Bovenberg, Jasper A ^q   De Craen, Anton J M ⁿ   Beekman, Marian ⁿ   Hofman, Albert ^j   Willemsen, Gonneke ⁱ   Wolffenbuttel, Bruce ^k   Platteel, Mathieu ^k   Du, Yuanping ^r   Chen, Ruoyan ^r   Cao, Hongzhi ^r   Cao, Rui ^r   Sun, Yushen ^r   Cao, Jeremy Sujie ^r   Neerincx, Pieter B T ^k   Dijkstra, Martijn ^k   Byelas, George ^k   Kanterakis, Alexandros ^k   Bot, Jan ^s   Vermaat, Martijn ^n,t   Laros, Jeroen F J ^n,t   Den Dunnen, Johan T ⁿ   De Knijff, Peter ⁿ   Karssen, Lennart C ^j   Van Leeuwen, Elisa M ^j   Amin, Najaf ^j   Rivadeneira, Fernando ^j   Estrada, Karol ^j   Hottenga, Jouke Jan ⁱ   Kattenberg, V Mathijs ^i,t   Van Enckevort, David ^t   Mei, Hailiang ^t   Santcroos, Mark ^u   Van Schaik, Barbera D C ^u   Handsaker, Robert E ^f,v   McCarroll, Steven A ^f,v   Ko, Arthur ^m   Sudmant, Peter ^m   Nijman, Isaac J ^d   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b SAARLAND UNIVERSITY   (Germany)

^c MAX PLANCK INSTITUTE FOR INFORMATICS   (Germany)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

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

^g MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^h CWI   (Netherlands)

ⁱ VU UNIVERSITY AMSTERDAM   (Netherlands)

^j ERASMUS MEDICAL CENTER   (Netherlands)

^k UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^l UNIVERSITY OF GRONINGEN   (Netherlands)

^m HOWARD HUGHES MEDICAL INSTITUTE   (United States)

ⁿ LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^o WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^p XI'AN JIAOTONG UNIVERSITY   (China)

^q Legal Pathways Institute for Health and Bio Law   (Netherlands)

^r BGI SHENZHEN   (China)

^s LEIDEN UNIVERSITY   (Netherlands)

^t NETHERLANDS BIOINFORMATICS CENTRE   (Netherlands)

^u ACADEMIC MEDICAL CENTER   (Netherlands)

^v HARVARD MEDICAL SCHOOL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEXITY; GENETIC ANALYSIS; GENETIC VARIATION; GENOMICS; HUMAN ACTIVITY; PHENOTYPE; SPECTRUM;

ALLELE; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; DUTCHMAN; EXON; GENE DUPLICATION; GENE EXPRESSION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE SEQUENCE; GENETIC VARIATION; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN GENOME; INDEL MUTATION; POPULATION GENETICS; RNA PROCESSING; SEGMENTAL DUPLICATION; SINGLE NUCLEOTIDE POLYMORPHISM; ALGORITHM; BIOLOGY; CHROMOSOME; GENE DELETION; GENOMICS; METABOLISM; NETHERLANDS; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SOFTWARE; ULTRASTRUCTURE;

NETHERLANDS;

RNA;

ALGORITHMS; CHROMOSOMES; COMPUTATIONAL BIOLOGY; GENE DELETION; GENOME, HUMAN; GENOMIC STRUCTURAL VARIATION; GENOMICS; GENOTYPE; HAPLOTYPES; HUMANS; INDEL MUTATION; LINKAGE DISEQUILIBRIUM; NETHERLANDS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA; SEQUENCE ANALYSIS, DNA; SEQUENCE ANALYSIS, RNA; SOFTWARE;

EID: 84990859114     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms12989     Document Type: Article

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