An Integrated Approach to Profiling Haematological Disorders Brochure
It is well known that most haematological disorders are caused by genomic changes such as point mutations, chromosomal rearrangements, copy number variations (CNVs) or a combination of these.
Technological advances have enabled us to uncover disease-driving mutations and translate these findings to actionable targets. This has contributed greatly to the development of precision medicine — personalised treatment based on a patient’s genetic makeup.
For accurate detection of all types of genetic aberrations, various technologies are used. By combining information from multiple technologies, researchers can analyse complex samples and get the most complete overview of disease-driving mutations.