Whole-exome sequencing and targeted copy number analysis in primary ciliary dyskinesia

G3: Genes, Genomes, Genetics

Volumn 5, Issue 8, 2015, Pages 1775-1781

  Marshall, Christian R ^a,b   Scherer, Stephen W ^b,c   Zariwala, Maimoona A ^d   Lau, Lynette ^a   Paton, Tara A ^b   Stockley, Tracy ^a   Jobling, Rebekah K ^a   Ray, Peter N ^a   Knowles, Michael R ^d   Hall, David A ^c,e   Dell, Sharon D ^a,f   Kim, Raymond H ^a,c,f  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^e ST MICHAEL'S HOSPITAL   (Canada)

^f UNIVERSITY OF TORONTO   (Canada)

Author keywords

Copy number variation; Diagnostic testing; Primary ciliary dyskinesia; Whole exome sequencing

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 1; CHROMOSOME 16; CILIARY DYSKINESIA; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; COST EFFECTIVENESS ANALYSIS; EXOME; FEMALE; FRAMESHIFT MUTATION; GENE SEQUENCE; GENE TARGETING; GENETIC ALGORITHM; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; GENETIC SCREENING; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; MALE; NONSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PROTEIN FUNCTION; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; WHOLE EXOME SEQUENCING; YOUNG ADULT; ALGORITHM; CILIARY MOTILITY DISORDERS; DNA SEQUENCE; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; INFANT; STOP CODON;

AXONEMAL DYNEIN; DNAAF3 PROTEIN, HUMAN; DYX1C1 PROTEIN, HUMAN; MICROTUBULE ASSOCIATED PROTEIN; NERVE PROTEIN; NUCLEAR PROTEIN; STOP CODON;

ADOLESCENT; ADULT; ALGORITHMS; AXONEMAL DYNEINS; CHILD; CHILD, PRESCHOOL; CILIARY MOTILITY DISORDERS; CODON, NONSENSE; DNA COPY NUMBER VARIATIONS; EXOME; FEMALE; FRAMESHIFT MUTATION; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MALE; MICROTUBULE-ASSOCIATED PROTEINS; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 84938878780     PISSN: None     EISSN: 21601836     Source Type: Journal    
DOI: 10.1534/g3.115.019851     Document Type: Article

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