Clinical application of a custom Ampliseq library and ion torrent PGM Sequencing to comprehensive mutation screening for deafness genes

Genetic Testing and Molecular Biomarkers

Volumn 19, Issue 4, 2015, Pages 209-217

  Nishio, Shin Ya ^a   Hayashi, Yoshiharu ^b   Watanabe, Manabu ^b   Usami, Shin Ichi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Thermo Fisher Scientific   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; DNA FRAGMENT; PENDRIN;

ARTICLE; BILATERAL HEARING LOSS; COMPUTER PROGRAM; DIAGNOSTIC ACCURACY; DIAGNOSTIC KIT; DIAGNOSTIC TEST ACCURACY STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; GENETIC ANALYZER; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; INTERMETHOD COMPARISON; JAPANESE (PEOPLE); MAJOR CLINICAL STUDY; MALE; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION SYSTEM; CLINICAL TRIAL; GENE LIBRARY; GENETIC DISORDER; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PROCEDURES;

FEMALE; GENE LIBRARY; GENETIC DISEASES, INBORN; GENETIC TESTING; HEARING LOSS, SENSORINEURAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION;

EID: 84926652684     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2014.0252     Document Type: Article

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