Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model

BMC Genetics

Volumn 15, Issue , 2014, Pages

  Gao, Rui ^a   Liu, Yanxia ^a   Gjesing, Anette P ^b   Hollensted, Mette ^b   Wan, Xianzi ^a   He, Shuwen ^c   Pedersen, Oluf ^b   Yi, Xin ^a   Wang, Jun ^a,b,f   Hansen, Torben ^b,d,e  

^a BGI SHENZHEN   (China)

^b Capital Region   (Denmark)

^c Central South University   (China)

^d STENO DIABETES CENTER   (Denmark)

^e UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^f UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL EVALUATION; DIAGNOSTIC TEST ACCURACY STUDY; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE MUTATION; GENE STRUCTURE; GENE TARGETING; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INDEL MUTATION; INFANT; INTRON; MAJOR CLINICAL STUDY; MALE; METABOLISM; MONOGENIC DISORDER; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NON INSULIN DEPENDENT DIABETES MELLITUS; PRESCHOOL CHILD; PROMOTER REGION; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TARGET REGION CAPTURE SEQUENCING; UNTRANSLATED REGION; YOUNG ADULT;

DIABETES MELLITUS, TYPE 2; DNA MUTATIONAL ANALYSIS; GENE DUPLICATION; HUMANS; INDEL MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION;

EID: 84896734695     PISSN: None     EISSN: 14712156     Source Type: Journal    
DOI: 10.1186/1471-2156-15-13     Document Type: Article

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