Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing

Genetics in Medicine

Volumn 13, Issue 3, 2011, Pages 218-229

  Berg, Jonathan S ^a   Evans, James P ^a   Leigh, Margaret W ^a   Omran, Heymut ^b   Bizon, Chris ^c   Mane, Ketan ^c   Knowles, Michael R ^a   Weck, Karen E ^a   Zariwala, Maimoona A ^a  

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

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

clinical genetics; exon capture; molecular diagnostic testing; next generation sequencing; primary ciliary dyskinesia

Indexed keywords

PROTEIN; TEKTIN 2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CCDC114 GENE; CHILD; CLINICAL EVALUATION; DYNC2H1 GENE; DYNEIN HEAVY CHAIN 10 GENE; DYNEIN HEAVY CHAIN 11 GENE; DYNEIN HEAVY CHAIN 14 GENE; DYNEIN HEAVY CHAIN 2 GENE; DYNEIN HEAVY CHAIN 3 GENE; DYNEIN HEAVY CHAIN 5 GENE; DYNEIN HEAVY CHAIN 6 GENE; DYNEIN HEAVY CHAIN 7 GENE; DYNEIN HEAVY CHAIN 9 GENE; EXOME; EXON; FEMALE; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; INDEL MUTATION; LRRC50 GENE; LYMPHOBLASTOID CELL LINE; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PILOT STUDY; PRIMARY CILIARY DYSKINESIA; RSPH4A GENE; SCHOOL CHILD; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; SPEF2 GENE;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; EXONS; FEMALE; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; KARTAGENER SYNDROME; MALE; MUTATION; PEDIGREE; PILOT PROJECTS; SENSITIVITY AND SPECIFICITY; SEQUENCE ALIGNMENT;

EID: 79952188041     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e318203cff2     Document Type: Article

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