Engineering
Data Scientist / Bioinformatics Engineer
About the role
What you'll do
- Develop and optimize human genome bioinformatics pipelines using AWS HealthOmics (Omics Workflows)
- Design and implement scalable human genomic data processing workflows on AWS
- Build and maintain Nextflow and WDL (Workflow Description Language) pipeline definitions for human genome analysis
- Integrate human genome bioinformatics tools and algorithms into cloud-native workflows
- Process and analyze large-scale human genomic datasets (WGS, WES, RNA-seq, etc.)
- Build pipelines for human genome variant calling, annotation, and interpretation
- Optimize pipeline performance, cost, and resource utilization on AWS
- Implement data quality control, validation, and error handling in pipelines
- Work with AWS HealthOmics Sequence Stores, Annotation Stores, and Reference Stores
- Design and implement data processing workflows using AWS Batch, Step Functions, and Lambda
- Build data transformation and ETL pipelines for genomic data
- Implement data storage and retrieval strategies using S3, DynamoDB, and HealthOmics stores
- Develop monitoring, logging, and alerting solutions using CloudWatch
- Create data visualization dashboards and reports for bioinformatics results
- Collaborate with research scientists and clinicians to understand requirements
- Document pipeline architecture, workflows, and best practices
- Implement version control and reproducibility for bioinformatics pipelines
- Optimize costs and resource allocation for large-scale genomic processing
- Integrate with laboratory information systems (LIS/LIMS) and healthcare systems
- Ensure compliance with healthcare data regulations (HIPAA, GDPR) in data processing
- Deliver end-to-end bioinformatics projects from requirements gathering to production deployment
- Participate in code reviews, sprint planning, and team discussions
- Stay updated with latest bioinformatics tools, AWS HealthOmics features, and genomics research
What we're looking for
- Bachelor's or Master's degree in Bioinformatics, Computational Biology, Data Science, Computer Science, or related field (PhD preferred)
- 3-5 years of professional hands-on experience in bioinformatics with proven track record of successfully delivering human genome bioinformatics projects from conception to production
- 2+ years of hands-on experience building and optimizing human genome bioinformatics pipelines with demonstrated project outcomes and strong portfolio demonstrating completed projects with measurable results
- Deep expertise in human genome bioinformatics: variant calling (germline & somatic), annotation, interpretation, and analysis using tools like GATK, DeepVariant, Strelka2, Mutect2, VEP, ANNOVAR, BWA, and following GATK best practices
- Strong proficiency in Python and/or R for bioinformatics analysis, with experience in Nextflow and/or WDL for pipeline development
- Deep understanding of human genomic data formats (FASTQ, BAM, CRAM, VCF, gVCF) and reference assemblies (GRCh37, GRCh38) with knowledge of annotation databases (dbSNP, ClinVar, gnomAD)
- Experience with AWS HealthOmics or similar cloud genomics platforms (preferred, but candidates with strong human genome pipeline experience will be considered even without direct HealthOmics experience)
- Understanding of AWS services (Batch, Step Functions, Lambda, S3, DynamoDB, CloudWatch) or similar cloud platforms, with experience in containerization (Docker) and high-performance computing for genomics
- Experience with version control (Git), data quality control, validation, QC metrics, and statistical analysis for genomic data
- Valid cloud certification in AWS, Azure, or GCP (preferred)
- Strong problem-solving, analytical thinking, and excellent communication skills with ability to work independently and in a team
- Experience with healthcare/healthtech domain, HIPAA-compliant systems, clinical genomics, or precision medicine (preferred)
You'll achieve more at OrbitNexa OrbitNexa is an equal opportunity employer committed to building a culture where all employees are valued, respected and opinions count. We take pride in providing a workplace that fosters continuous professional development, flexible working and, opportunities to grow within an inclusive and diverse environment. We encourage applications from all suitably qualified persons irrespective of, but not limited to, their gender or genetic information, sexual orientation, ethnicity, religion, social status, medical care leave requirements, political affiliation, people with disabilities, color, national origin, veteran status, etc., We consider all applications based on merit and suitability to the role. Personal data held by the Company relating to employment applications will be used in accordance with our Privacy Statement, which is available on our website. ***Issued By OrbitNexa Technologies***