Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy

Journal of Cardiology

Volumn 67, Issue 2, 2016, Pages 133-139

  Nomura, Akihiro ^a,b,c,d   Tada, Hayato ^a   Teramoto, Ryota ^a   Konno, Tetsuo ^a,e   Hodatsu, Akihiko ^a   Won, Hong Hee ^b,c,d   Kathiresan, Sekar ^b,c,d   Ino, Hidekazu ^a   Fujino, Noboru ^a   Yamagishi, Masakazu ^a   Hayashi, Kenshi ^a  

^a KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

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

^d HARVARD MEDICAL SCHOOL   (United States)

^e KANAZAWA UNIVERSITY   (Japan)

Author keywords

Bioinformatics; Hypertrophic cardiomyopathy; Myosin essential light chain; Whole exome sequencing

Indexed keywords

MYOSIN LIGHT CHAIN; MYOSIN LIGHT CHAIN 3; UNCLASSIFIED DRUG; MYOSIN LIGHT CHAIN 3, HUMAN;

ADULT; AGED; ARTICLE; BIOINFORMATICS; CLINICAL ARTICLE; CLINICAL EFFECTIVENESS; CLINICAL EVALUATION; COMBINED DEPENDENT DEPLETION SCORE; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEART LEFT VENTRICLE WALL; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NONSENSE MUTATION; PHENOTYPE; RNA SPLICING; SCORING SYSTEM; WHOLE EXOME SEQUENCING; YOUNG ADULT; EXOME; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; GENETIC SCREENING; GENETIC VARIATION; GENETICS; HEART VENTRICLE; HETEROZYGOTE; JAPAN; MOLECULAR GENETICS; PATHOLOGY; PEDIGREE; PENETRANCE; PROCEDURES; REGISTER;

ADULT; AGED; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; EXOME; FEMALE; GENE EXPRESSION; GENETIC TESTING; GENETIC VARIATION; HEART VENTRICLES; HETEROZYGOTE; HUMANS; JAPAN; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MYOSIN LIGHT CHAINS; PEDIGREE; PENETRANCE; PHENOTYPE; REGISTRIES;

EID: 84955372696     PISSN: 09145087     EISSN: 18764738     Source Type: Journal    
DOI: 10.1016/j.jjcc.2015.09.003     Document Type: Article

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