title: Context and Applications of Targeted Genetic Testing, with Emphasis on Copy Number Variants.
abstract: There has been a huge acceleration in our technical ability to detect variation in the human genome in recent years, and there has been a corresponding effort in clinical diagnostic laboratories to take advantage of this progress for the benefit of patients. There has, however, not been an equivalent increase in our understanding of human genetics and disease, not for lack of effort but due to the far greater complexity of understanding variation than the difficulties of detecting it. This chapter describes how software tools can be used to target clinical genetic diagnostic testing in order to exploit technical and scientific advances both efficiently and cost-effectively, while maximizing clinical utility.
authors.affiliation: Genetics Centre, Guy's & St Thomas' NHS Foundation Trust, London, United Kingdom.
authors.forename: J W
authors.initials: JW
authors.lastname: Ahn
authors.affiliation: Genetics Centre, Guy's & St Thomas' NHS Foundation Trust, London, United Kingdom. Electronic address: caroline.ogilvie@genetics.kcl.ac.uk.
authors.forename: C
authors.initials: C
authors.lastname: Ogilvie
mesh_terms: D000328:Adult; D000818:Animals; D056915:DNA Copy Number Variations / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D015894:Genome, Human; D055106:Genome-Wide Association Study; D006801:Humans; D021141:Nucleic Acid Amplification Techniques; D011247:Pregnancy
keywords: Array CGH; CNV; NGS; Software filtering; Software targeting; Targeted testing; Variant