Understanding Functional and Medical Impact of Genetic Variation

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High-throughput sequencing (HTS) technologies, such as Illumina HiSEQ and Life Technologies' SOLiD, are able to sequence multiple human genome each week at a cost of ~$5,000/genome. While the analysis of primary data - reads - generated by the sequencing machines to reconstruct the original genome remains a significant computational challenge, the accuracy of methods for alignment and assembly of HTS data have improved significantly over the last few years, and standardized pipelines for identifying Single Nucleotide Polymorphisms (SNPs), Insertion/Deletions (Indels) and Copy Number Variants (CNVs) are beginning to appear. The accurate reconstruction of human genotypes has allowed for large-scale population sequencing projects such as the 1000 Genomes Project. However the use of HTS for medical applications has been hindered by the difficulty of identifying disease causing variants within reconstructed human genotypes. While any two human genomes will be 99.9% similar, they also contain millions of differences. Under the NSERC Discovery grant I will develop a research program that will lead to a better understanding of genomic variation, including developing methodologies that will help identify functional genomic variation, as well as advancing Ciona savignyi as a model organism for population genomics.