Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel

Clinical and Experimental Nephrology

Volumn 21, Issue 1, 2017, Pages 63-75

  Mori, Takayasu ^a   Hosomichi, Kazuyoshi ^c   Chiga, Motoko ^a   Mandai, Shintaro ^a   Nakaoka, Hirofumi ^b   Sohara, Eisei ^a   Okado, Tomokazu ^a   Rai, Tatemitsu ^a   Sasaki, Sei ^a   Inoue, Ituro ^b   Uchida, Shinichi ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b NATIONAL INSTITUTE OF GENETICS   (Japan)

^c KANAZAWA UNIVERSITY   (Japan)

Author keywords

Comprehensive diagnosis; Custom panel; Inherited kidney diseases; Next generation sequencing; SPEEDI KID

Indexed keywords

ANALYTICAL EQUIPMENT; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DNA SEQUENCE; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; GENOME-WIDE ASSOCIATION STUDY; HUMAN; KIDNEY DISEASE; MAJOR CLINICAL STUDY; NEXT GENERATION SEQUENCING; POLYMERASE CHAIN REACTION; SANGER SEQUENCING; ADOLESCENT; ADULT; AGED; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION PROFILING; GENETIC ASSOCIATION STUDY; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; HEREDITY; HIGH THROUGHPUT SEQUENCING; INFANT; KIDNEY DISEASES; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PREDICTIVE VALUE; PRESCHOOL CHILD; PROCEDURES; REPRODUCIBILITY; VALIDATION STUDY;

GENETIC MARKER;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION PROFILING; GENETIC ASSOCIATION STUDIES; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEREDITY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; KIDNEY DISEASES; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PREDICTIVE VALUE OF TESTS; REPRODUCIBILITY OF RESULTS;

EID: 84975784192     PISSN: 13421751     EISSN: 14377799     Source Type: Journal    
DOI: 10.1007/s10157-016-1252-1     Document Type: Article

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