Bioinformatics Seminar
Time:
Venue: Na
10 July 2018
NaThe hunt for the Cheshire Alu
Tom ConwayPeterMac
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.;;;