Research focus
About the research
Which changes in a genome matter for disease, and how can researchers find them efficiently?
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The group combines genetics and genomic technologies with computer science and machine learning to analyze genetic variation. Researchers develop software for identifying candidate variants in rare familial disease and detecting structural changes such as deletions, duplications and inversions. Another direction examines genomic changes involved in cancer evolution, treatment resistance and relapse. The lab also maintains practical tools for manipulating and comparing large sequencing datasets, including BEDTOOLS, GEMINI and LUMPY.
Selected publications
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People & alumni
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