The Genome Institute of Singapore (GIS) has an exciting opportunity for a Research Officer (Bioinformatics Specialist) to join a population-scale genomics initiative that aims to create a comprehensive data bank with integrated genetic, clinical and lifestyle data. In its pilot phase, this effort has completed whole-genome sequencing of 10K individuals, and has delivered a catalogue of common genetic variants across Singapore’s three main ethnic populations (Wu D. et al. 2019, Wong et al. 2022 in preparation). Now, the challenge is to scale up genetic data production and develop the infrastructure needed the next phases of the National Precision Medicine Program (100K individuals by 2024, then 1 million individuals in 2025 and beyond). By joining our multi-disciplinary, team, you will be involved in efforts to set up a high-throughput data analysis workflow, devise solutions for managing and controlling access to petabytes of information, and eventually apply the developed tools to deliver one of the largest population genomics efforts in South Asia to date.
Candidates who meet most of the requirements will be considered.
- BSc, MSc or equivalent experience in Bioinformatics, Computational Biology, or related
- Demonstrated experience in Python, preferably applied to task automation and data analysis
- Experience in analysis of high-throughput sequencing data
- Knowledge of standard bioinformatics file formats (BAM/CRAM, (g)VCF…), tools (samtools, bcftools, IGV…) and data repositories (dbSNP, ClinVar, Ensembl, gnomAD…)
- Excellent attention to detail and problem-solving skills
- Strong communication skills and ability to work as a team
- Good organisational skills
- Ability to learn quickly on the job
- Familiarity with various tools such as Docker/Singularity, Conda and/or nextflow is a plus
- Familiarity with cloud computing environments (especially AmazonWebServices) is a plus
- Experience with version control systems such as Git/GitHub is a plus
- Experience with Atlassian software (Jira, Confluence) is a plus
- Design, develop and implement workflows for analysing results from high-throughput sequencing experiments
- Design, develop and implement cloud infrastructure to support population-scale WGS pipelines
- Document analysis workflows and their associated data flow into SOPs, work instructions, protocols and other technical documentation
- Follow established protocols in order to process consortia samples at large-scale
- Contribute to collaborations with local and international industry partners in both the Biotech and Pharma sectors
- Raise, troubleshoot and document unexpected outcomes in production workflows, and collaborate with colleagues to promptly resolve them
- Implement standards and best practices (e.g. GA4GH)
- Coordinate with members of the Dev Ops team to identify improvement areas, suggest solutions and implement them following a controlled changed process
- Deliver internal training on various aspects of the production workflow
For more information, get in touch with us at email@example.com.