Bioinformatics Seminar
Time:
Venue: Na
7 June 2016
NaEstablishing and evaluating the molecular inversion probes targeted sequencing platform in neurogenetic disorders
Yu-ChiWEHI Population Health & Immunity Division
Molecular Inversion Probe Sequencing (MIPS) is a multiplexed targeted sequencing platform with a broad range of applications. It has been especially successful in disease gene identification in neurogenetic disorders such as autism and epilepsies. Recent incorporation of single molecule tagging to the platform enables detection of low frequency somatic mutation which has recently emerged as the cause of certain neurological disorders such as a variety of brain malformation syndromes and epilepsies. As part of the effort to establish the platform locally at the Epilepsy Research Center in Melbourne ; we have set up a bioinformatics pipeline for MIPS data analysis. The presentation will demonstrate the preliminary analysis using the pipeline ; including some unique properties of the MIPS data and factors that may affect target capture efficiency.