Doherty, EMarquis-Nicholson, RBrookes, CLove, JMProsser, DLove, Donald2012-02-222011-04In Applications and Experiences of Quality Control. 257-272. InTech Apr 2011978-953-307-236-4http://hdl.handle.net/2292/115991. Introduction Confirmation of a clinical diagnosis of a heritable disorder usually involves the analysis of the coding exons of a gene, plus surrounding intronic sequences. Variants that are identified using this strategy can be classed as either disease-causing or non-pathogenic polymorphisms. The variants comprise point mutations, micro insertions and deletions (indels), and copy number changesItems in ResearchSpace are protected by copyright, with all rights reserved, unless otherwise indicated. Previously published items are made available in accordance with the copyright policy of the publisher.https://researchspace.auckland.ac.nz/docs/uoa-docs/rights.htmBook ItemCopyright: InTechhttp://purl.org/eprint/accessRights/RestrictedAccess