The genome of an individual is composed of 3.3 billion base pairs (nucleic acids) and contains a plethora of pertinent medical information. The sequencing of these nucleic acids is without doubt the field of analytics that has made the greatest progress over the last 20 years.
To find out more
High-throughput sequencing (HTS) now makes it possible to sequence the whole genome, or exome or regions of interest more quickly and at a lower cost. It is a very powerful tool for the systematic identification of genomic variations.
High-throughput whole genome sequencing is expected to become a single genetic test to identify and characterize the complete spectrum of genetic variations. These data can lead to the identification of genetic predispositions to rare diseases or cancers (constitutional variations), and to personalized treatment (constitutional or somatic variations in cancer), and even to implement preventive measures for certain treatable diseases.
Number of HTS tests performed by the GIMI Institute
