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Article

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

American journal of medical genetics. Part A - 1 Oct 2014

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

Abstract excerpt

Whole genome sequencing (WGS) has the potential to report on all types of genetic abnormality, thus converging diagnostic testing on a single methodology. Although WGS at sufficient depth for robust detection of point mutations is still some way from being affordable for diagnostic purposes, low-coverage WGS is already an excellent method for detecting copy number variants ("CNVseq"). We report on a family in...

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Identifiers

PMID: 25045150
DOI: 10.1002/ajmg.a.36679

Genes

CNTNAP2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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