Bioinformatics Seminars

Bioinformatics Seminar

Time: 10:45am Tuesdays.
Level 7 Seminar Room 2, WEHI1

10 July 2018

The hunt for the Cheshire Alu

Tom Conway

Alus are transposable elements in the primate lineage of genomes. There are around a million copies in the human genome -- comprising some 10% of the genome. There are a modest number instances where they are inserted in genes, BRCA2 in particular, with deleterious consequences. Because they are repeated all over the genome, identifying non-reference insertions is difficult. In this talk we present the bioinformatic odyssey of trying to confirm a particular instance from short read data. In doing so, we hope to elucidate some of the tools in the bioinformatics toolbox, and highlight the value of focused methods. The happy side effect of the odyssey was the creation of a method for detecting large genomic insertions.

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