Whole genome analysis
Our team is working on a “Discovery to clinical utility of rare mutations by whole genome sequencing in neurodevelopmental conditions” project that is funded by Science Foundation Ireland (SFI) by the SFI Starting Investigator Research Grant (SIRG), grant number 15/SIRG/3324.
With this whole genome analysis project, we aim to reveal rare variants associated with autism that could inform future personalised medicine research in future clinical treatments and interventions. This form of genetic analysis is facilitated by the advancement of DNA sequencing, particularly next generation sequencing (NGS). Whole genome analysis is the characterization of non-coding and coding, rare and common, regions of whole genomes. This unbiased base-by- base view allows researchers to identify areas of genomes as well as the functionality and effects of genomic segments and variants on a large scale. Genetic software and biological databases are essential for genomic analysis. Many bioinformatic tools that deduce variant types and annotate genetic data have been created to unveil the genetic architecture of various populations.
The recruitment of participants for this research study is now closed.