Primer design to sequence analysis: a pipeline tool for use in a diagnostic genetics laboratory

Reference

In Applications and Experiences of Quality Control. 257-272. InTech Apr 2011

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Abstract

  1. 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 changes

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ANZSRC 2020 Field of Research Codes