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Updated: Jun 17, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human
Richard G H Cotton1, Aida I Al Aqeel, Fahd Al-Mulla
1Genomic Disorders Research Centre, Melbourne, Australia. cotton@unimelb.edu.au <cotton@unimelb.edu.au>
Abstract:
The collection of genetic variants that cause inherited disease (causative mutation) has occurred for decades albeit in an ad hoc way, for research and clinical purposes. More recently, the access to collections of mutations causing specific diseases has become essential for appropriate genetic health care. Because information has accumulated, it has become apparent that there are many gaps in our ability to correctly annotate all the changes that are being identified at ever increasing rates. The Human Variome Project (www.humanvariomeproject.org) was initiated to facilitate integrated and systematic collection and access to this data. This manuscript discusses how collection of such data may be facilitated through new software and strategies in the clinical genetics and diagnostic laboratory communities.
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