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

Watson, Christopher M

Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome. [electronic resource] - American journal of medical genetics. Part A Oct 2014 - 2649-55 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.36679 doi


Adolescent
DNA Copy Number Variations--genetics
Exons--genetics
Female
Humans
Male
Membrane Proteins--deficiency
Molecular Diagnostic Techniques--methods
Mutation--genetics
Nerve Tissue Proteins--deficiency
Nucleotides--genetics
Pedigree
Sequence Analysis, DNA--methods
Sequence Deletion--genetics