Tools for Detection of DNA Genomic Structural Variants and Application to the Analysis of Human Whole Genome Sequencing Datasets

SPRING 2018 RESEARCH INCUBATION AWARDEES

Pl: Gary Benson, Bioinformatics, Computer Science, Biology, CAS
Collaborators: Paola Sebastiani, School of Public Health, SPH; Uwe Beffer, Biology, CAS

The project aims to develop the mathematical tools necessary to assess and correct read mapping accuracy in repeat rich genomic regions. Additionally, the goal is to develop efficient algorithms to identify SVs using corrected read mapping data with laboratory validation to assess the accuracy. Analysis of several thousands of human genome sequencing datasets to identify common and rare SVs and major SV breakpoint hotspots with these tools is expected to add significantly to our currently very limited knowledge of a major class of genetic variants. Novel enhancements of analytical tools for variability detection will lead directly to improved understanding of genome and species evolution, population variability, phenotypic differences, and causes of disease.

This work is funded by a Research Incubation Award made in January, 2018.