High-throughput sequencing (HTS) platforms have revolutionised the genomics arena and the understanding of human genome diversity. The genetic causes of disease and the molecules behind evolution are all within grasp. To realise this, analysis of masses of data has to be able to deduce the significance of the genetic variation. The IAGVDHTS (Integrated approaches for genomic variation discovery using high throughput sequencing) project has upgraded and developed new algorithms to achieve this. The researchers worked on algorithms to improve speed, accuracy, and sensitivity of read mapping tools. Moreover, they developed algorithms to operate within the most recent HTS platforms. Inversions are notoriously difficult to detect and the scientists have developed algorithms to discover large areas of the genome where the arrangement of genetic material is reversed. They also produced a new tool to incorporate different sequence signatures for structural variation into one package. Research has been published in peer-reviewed journals as well as a paper submitted to the Genome Biology journal. Project work was enriched by involvement of PhD and M.Sc. students, one of whom is continuing to work post-project in areas in line with IAGVDHTS.
Genomic sequencing, algorithms, genome diversity, IAGVDHTS, mapping tools