Detection of long repeat expansions from PCR-free whole-genome sequence data

Genome Research

Volumn 27, Issue 11, 2017, Pages 1895-1903

  Dolzhenko, Egor ^a   van Vugt, Joke J F A ^b   Shaw, Richard J ^c,d   Bekritsky, Mitchell A ^c   Van Blitterswijk, Marka ^e   Narzisi, Giuseppe ^f   Ajay, Subramanian S ^a   Rajan, Vani ^a   Lajoie, Bryan R ^a   Johnson, Nathan H ^a   Kingsbury, Zoya ^c   Humphray, Sean J ^c   Schellevis, Raymond D ^b   Brands, William J ^b   Baker, Matt ^e   Rademakers, Rosa ^e   Kooyman, Maarten ^g   Tazelaar, Gijs H P ^b   van Es, Michael A ^b   McLaughlin, Russell ^h,i   Sproviero, William ^j   Shatunov, Aleksey ^j   Jones, Ashley ^j   Khleifat, Ahmad Al ^j   Pittman, Alan ^k   Morgan, Sarah ^k   Hardiman, Orla ^h,i   Al Chalabi, Ammar ^j   Shaw, Chris ^j   Smith, Bradley ^j   Neo, Edmund J ^j   Morrison, Karen ^l   Shaw, Pamela J ^m   Reeves, Catherine ^f   Winterkorn, Lara ^f   Wexler, Nancy S ^n,o   Housman, David E ^p   Ng, Christopher W ^p   Li, Alina L ^p   Taft, Ryan J ^a   van den Berg, Leonard H ^q   Bentley, David R ^c   Veldink, Jan H ^b   Eberle, Michael A ^a   more..

^a ILLUMINA INC   (United States)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c Illumina Cambridge Limited   (United Kingdom)

^d Repositive Ltd   (United Kingdom)

^e MAYO GRADUATE SCHOOL   (United States)

^f NEW YORK GENOME CENTER   (United States)

^g SURFSARA   (Netherlands)

^h TRINITY COLLEGE DUBLIN   (Ireland)

ⁱ BEAUMONT HOSPITAL   (Ireland)

^j KING'S COLLEGE LONDON   (United Kingdom)

^k UNIVERSITY COLLEGE LONDON   (United Kingdom)

^l UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^m UNIVERSITY OF SHEFFIELD   (United Kingdom)

ⁿ Och Spine at New York Presbyterian Hospitals   (United States)

^o Hereditary Disease Foundation   (United States)

^p MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^q NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE EXCHANGE C9ORF72; C9ORF72 PROTEIN, HUMAN; REPETITIVE DNA;

ALLELE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; EXPANSIONHUNTER; FRAGILE X SYNDROME; FRIEDREICH ATAXIA; GENE LOCUS; HUMAN; HUNTINGTON CHOREA; MAJOR CLINICAL STUDY; PEDIGREE; PERSONALIZED MEDICINE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SHORT TANDEM REPEAT; SOFTWARE DESIGN; WHOLE GENOME SEQUENCING; ALGORITHM; GENETIC DATABASE; GENETICS; PROCEDURES; SOFTWARE;

ALGORITHMS; AMYOTROPHIC LATERAL SCLEROSIS; C9ORF72 PROTEIN; DATABASES, GENETIC; DNA REPEAT EXPANSION; HUMANS; PRECISION MEDICINE; SENSITIVITY AND SPECIFICITY; SOFTWARE; WHOLE GENOME SEQUENCING;

EID: 85042236758     PISSN: 10889051     EISSN: 15495469     Source Type: Journal    
DOI: 10.1101/gr.225672.117     Document Type: Article

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