SciNet User Group Meeting  (Dec. 2016) (Old site; new site is at https://scinet.courses)

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Ricardo Harripaul (CAMH) will give a techtalk about "Computationally Mapping Autosomal Recessive Intellectual Disability: Combined Microarray and Exome Sequencing Identifies 26 Novel Candidate Genes in 192 Consanguineous Families".

Abstract

Approximately 1% of the population worldwide is affected by intellectual disability (ID), the vast majority of whom currently receive no molecular diagnosis. Previous studies indicate high levels of genetic heterogeneity, meaning there are many genes involved in this disorder. Here, we combined microarray genotyping and whole exome sequencing (WES) to identify candidate genes/mutations for 192 Pakistani and Iranian consanguineous families identified for ID. Using several different types of microarray platforms we computationally mapped regions where disease genes are most likely to be using a Hidden Markov Method in parallel. Once we had regions of interest, we used three different sequencing technologies in a bioinformatics pipeline involving human genome alignment, variant calling, annotation and validation of each disease gene in the families being studied. High-Performance Computing was instrumental in managing, processing and storing the large amount of data generated by this study. Our computational analysis allowed us to identify definite or candidate mutations in 51% of families, in 72 different genes, including 26 not previously reported for ID. The genes identified also showed overlap with genes for other neuropsychiatric disorders.

Last Modified: Monday Dec 5, 2016 - 17:03. Revision: 1. Release Date: Tuesday Aug 16, 2016 - 16:00.