Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing

Journal of Molecular Diagnostics

Volumn 18, Issue 3, 2016, Pages 446-453

  Qin, Lan ^a   Wang, Jing ^a   Tian, Xia ^a   Yu, Hui ^a   Truong, Cavatina ^a   Mitchell, John J ^b   Wierenga, Klaas J ^c   Craigen, William J ^a   Zhang, Victor Wei ^a   Wong, Lee Jun C ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b MONTREAL CHILDREN S HOSPITAL   (Canada)

^c UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; COL3A1 GENE; COPY NUMBER VARIATION; DNA PROBE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; INFANT; JAG1 GENE; MALE; MOSAICISM; NEWBORN; NEXT GENERATION SEQUENCING; OTC GENE; PDHA1 GENE; PHKA2 GENE; PRESCHOOL CHILD; PYGM GENE; QUANTITATIVE ANALYSIS; SCHOOL CHILD; SEQUENCE ANALYSIS; SLC6A8 GENE; X CHROMOSOME LINKED DISORDER; YOUNG ADULT; DNA MUTATIONAL ANALYSIS; DOMINANT GENE; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; NUCLEOTIDE SEQUENCE; PROCEDURES; RECESSIVE GENE; X CHROMOSOMAL INHERITANCE;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; GENES, X-LINKED; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MALE; MOSAICISM; MUTATION; YOUNG ADULT;

EID: 84963958001     PISSN: 15251578     EISSN: 19437811     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2016.01.002     Document Type: Article

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