New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome

BMC Genetics

Volumn 15, Issue , 2014, Pages

  Yang, Ren Qiang ^a,b,c   Jabbari, Javad ^a,b   Cheng, Xiao Shu ^c   Jabbari, Reza ^a,b   Nielsen, Jonas B ^a,b   Risgaard, Bjarke ^a,b   Chen, Xu ^a,b   Sajadieh, Ahmad ^d   Haunsø, Stig ^a,b,e   Svendsen, Jesper H ^a,b,e   Olesen, Morten S ^a,b,e   Tfelt Hansen, Jacob ^a,b,e  

^a University of Copenhagen   (Denmark)

^b DANISH NATIONAL RESEARCH FOUNDATION   (Denmark)

^c NANCHANG UNIVERSITY   (China)

^d BISPEBJERG HOSPITAL   (Denmark)

^e UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Genetic testing; HGMD; Marfan syndrome; The NHLBI GO exome sequencing project; Variant

Indexed keywords

ARTICLE; CLINICAL ASSESSMENT TOOL; COMPUTER MODEL; CONSERVATION ACROSS SPECIES; CONSERVATIVE TREATMENT; CONTROLLED STUDY; EXOME; FALSE POSITIVE RESULT; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GRANTHAM SCORE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MARFAN SYNDROME; PATHOGENICITY; POLYPHEN 2 PREDICTION; POPULATION; PREDICTION; SIFT PREDICTION;

COMPUTATIONAL BIOLOGY; EXOME; FALSE POSITIVE REACTIONS; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; GENOTYPE; HUMANS; MARFAN SYNDROME; PHENOTYPE; PREVALENCE;

EID: 84902301776     PISSN: None     EISSN: 14712156     Source Type: Journal    
DOI: 10.1186/1471-2156-15-74     Document Type: Article

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