Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Applied and Translational Genomics

Volumn 7, Issue , 2015, Pages 26-31

  Gorokhova, Svetlana ^a   Cerino, Mathieu ^a,b   Mathieu, Yves ^a   Courrier, Sébastien ^a   Desvignes, Jean Pierre ^a   Salgado, David ^a   Béroud, Christophe ^a   Krahn, Martin ^a,b   Bartoli, Marc ^a  

^a AIX MARSEILLE UNIVERSITY   (France)

^b TIMONE HOSPITAL   (France)

Author keywords

Gene panel; Genetic diagnosis; Massively parallel sequencing; Neuromuscular disorders; Targeted exome; Whole exome

Indexed keywords

ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA FRAGMENTATION; EXOME; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC PROCEDURES; GENETIC VARIABILITY; HUMAN; MASSIVELY PARALLEL SEQUENCING; MYOPATHY; NEUROMUSCULAR DISEASE; PILOT STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SITE DIRECTED MUTAGENESIS;

EID: 84949321743     PISSN: 22120661     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atg.2015.07.006     Document Type: Article

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