Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome

American Journal of Medical Genetics, Part A

Volumn 164, Issue 10, 2014, Pages 2649-2655

  Watson, Christopher M ^a,b   Crinnion, Laura A ^a,b   Tzika, Antigoni ^a   Mills, Alison ^a   Coates, Andrea ^a   Pendlebury, Maria ^a   Hewitt, Sarah ^a   Harrison, Sally M ^b   Daly, Catherine ^b   Roberts, Paul ^a   Carr, Ian M ^b   Sheridan, Eamonn G ^a,b   Bonthron, David T ^a,b  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

CNTNAP2; Split read mapping; Whole genome sequencing

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CNTNAP2 DEFICIENCY SYNDROME; CNTNAP2 GENE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; CYTOGENETICS; EPILEPSY; EXON; FAMILY HISTORY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE MAPPING; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC PROCEDURES; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; MALE; MEDICAL HISTORY; MOLECULAR DIAGNOSTICS; NUCLEOTIDE RESOLUTION BREAKPOINT IDENTIFICATION; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; SPLIT READ MAPPING; WHOLE GENOME SEQUENCING; CASE REPORT; DEFICIENCY; DNA SEQUENCE; GENETICS; MOLECULAR DIAGNOSIS; MUTATION; PEDIGREE; PROCEDURES;

CNTNAP2 PROTEIN, HUMAN; MEMBRANE PROTEIN; NERVE PROTEIN; NUCLEOTIDE;

ADOLESCENT; DNA COPY NUMBER VARIATIONS; EXONS; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; NERVE TISSUE PROTEINS; NUCLEOTIDES; PEDIGREE; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84908191581     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36679     Document Type: Article

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