Genome Analyses and Advancements in Diagnostic Genomics

Human genome project led to the availability of high-quality genomic data that bolstered the understanding of genetic disorders by enabling the analyses of disease genome sequences. Thereupon the advances in next generation sequencing technology and personalized medicine initiatives have led to a vast explosion of genome data and with it the next generation of, well annotated data portals which offer valuable tools to further our understanding of genomics and genetics. In this workshop, participants will be introduced to the basic architecture of human genome and bioinformatics tools for DNA sequence analyses. Utility of DNA variations in molecular diagnostics will be discussed using the public genome database and informatics. They will learn to navigate through the informatics tools to perform hands-on, in silico DNA sequence analysis.