Job Opportunity
RCSI is a leading academic institution dedicated to delivering exceptional healthcare solutions. We invite talented professionals to join our team of scientists, clinicians, and researchers in the field of clinical genomics.
The appointed individual will play a crucial role in supporting research into the genetic basis of human disease by contributing to variant curation, clinical data integration, and robust data management practices.
Key Responsibilities:
* Analyzing and interpreting next-generation sequencing pipeline outputs for cases primarily suspected of neurogenetic conditions.
* Reviewing and classifying genetic variants according to ACMG/AMP, ClinGen, and AGCS guidelines.
* Cultivating a vast array of tools and databases, including ClinVar, gnomAD, OMIM, Varsome, and HGMD, to curate variants.
* Designing and managing projects using best practices for secure collection of structured data.
* Collaborating with clinical and research teams to ensure data accuracy, completeness, and consistency.
This position is ideal for individuals with a background in genetics, genomics, or molecular biology, who have prior experience within a clinical genetics laboratory/multidisciplinary team (MDT) and are interested in applying their skills to real-world research with clinical relevance.