Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders

Clinical Genetics

Volumn 85, Issue 4, 2014, Pages 365-370

  Fokstuen, S ^a   Makrythanasis, P ^b   Nikolaev, S ^b   Santoni, F ^b   Robyr, D ^b   Munoz, A ^b   Bevillard, J ^b   Farinelli, L ^c   Iseli, C ^d,e   Antonarakis, S E ^a,b   Blouin, J L ^a,b  

^a GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^b UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^c FASTERIS SA   (Switzerland)

^d LUDWIG INSTITUTE FOR CANCER RESEARCH   (Switzerland)

^e SWISS INSTITUTE OF BIOINFORMATICS   (Switzerland)

Author keywords

DNA capture; Gene targeting; High throughput sequencing; Mendelian cardiac disorders; Multiplexing

Indexed keywords

GENOMIC DNA;

ADULT; AGED; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CHILD; CLINICAL PRACTICE; COST; EXON; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; FEMALE; GENE FREQUENCY; GENETIC HETEROGENEITY; HEART ARRHYTHMIA; HEART DISEASE; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN GENOME; LONG QT SYNDROME; MALE; MENDELIAN CARDIAC DISORDER; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MOLECULAR PATHOLOGY; PRIORITY JOURNAL; SCHOOL CHILD; ECONOMICS; GENETICS; HYPERTROPHIC CARDIOMYOPATHY; MUTATION;

AGED; CARDIOMYOPATHY, HYPERTROPHIC; CHILD; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LONG QT SYNDROME; MALE; MIDDLE AGED; MUTATION;

EID: 84896689833     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12168     Document Type: Article

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