Summary of Post This postdoctoral data scientist position is funded by the Research Ireland FutureNeuro Centre for Translational Brain Science.
The successful candidate will focus on identifying novel genetic risk factors and modifiers that can improve the stratification of patients with epilepsy and other neurological disorders.
The project will leverage large, existing datasets and build on key findings from ongoing FutureNeuro Centre research.
The postdoctoral data scientist will integrate GWAS, exome, and whole-genome sequencing datasets to identify new genetic predictors and stratifiers of neurological disease.
They will assess the effect size of polygenic risk scores (PRS) in the context of known genetic causes of disease and pathogenic variant type.
The role also involves expanding the concept of genetic burden to include rare, qualifying variants that fall below the ACMG pathogenic/likely pathogenic threshold (i.e., so-called "hot VUSs").
The researcher will work with large-scale genomic datasets assembled by the FutureNeuro Centre, as well as data accessed through Genomics England, Epi25, and other international consortia.
They will collaborate with clinical and academic partners across multiple institutions and countries, and will be responsible for data transfer, management of omics datasets, and analysis aligned with the project's aims.
The position offers opportunities to present research findings at national and international conferences and collaborative meetings.
The supervisory team is committed to providing a supportive training environment focused on mentorship, skills development, and career progression.
Specifically, the duties of the post are : Process large NGS and GWAS genetic datasets (quality control, variant calling, annotation, shortlisting etc).
Apply a variety of methods to quantify polygenic risk scores from common genetic variation (e.g. lassosum and PRSice etc).
Application of methods to quantify genomic burden from rare variants.
Develop and assess performance of predictive models (that integrate genomic predictors of disease status and outcomes) Work closely and collaboratively with other team members and colleagues in collaborating sites Work as a key members of the FutureNeuro Centre, identifying new genes associated with neurological disease.
Work closely with clinical neurologists, clinical geneticists and research scientists to identify genomic factors influencing trajectory of neurological disease.
Communicate the results of analysis in the form of oral and written presentations Provide mentoring to undergraduate and postgraduate students in the laboratory group Preparing applications to access relevant genomics datasets Qualifications – (Essential): PhD (or equivalent) in genomics/genetics/bioinformatics/computational biology/related discipline Knowledge