Staff Clinical Genomics Bioinformatics Scientist (Remote)

Helix; California; À distance; USD 146 000 - 196 000; Plein temps

Avantages offerts par ce poste

Comprehensive Health Insurance with DQ

Above average employer-paid premium

12 weeks Helix Paid Parental Leave

401(k) with employer matching up to 3%

100% Vesting on Date of Hire

Comprehensive Well-Being Benefits

Flexible PTO

Remote options for many roles

Résumé du poste

Helix is seeking a Staff Bioinformatics Scientist to bridge genomic variants and clinical answers, acting as the scientific authority on automation and AI for gene and variant curation. You will collaborate with product, clinical, and engineering leaders driving genomic medicine forward.

The role emphasizes design of automated annotation, integration of AI/ML, and conducting validation studies to support CLIA/CAP compliance and LDT filings, with cross-functional API work and scalable pipelines.

Qualifications

• Ph.D. in Bioinformatics, Computational Biology, Human Genetics, or a related field with 5+ years of clinical genomics industry experience.
• Deep expertise in human molecular genetics, ACMG/AMP variant interpretation guidelines, and clinical databases such as ClinVar and gnomAD.
• Advanced proficiency in genetic file formats, especially VCF, and data science tools such as SQL and Python.
• Demonstrated ability to evaluate emerging technical approaches, such as ML, LLMs, and novel bioinformatics methods, for feasibility and impact.

Responsabilités

• Design and prototype automated approaches to annotation, evidence synthesis, and pre-classification of germline variants that can support clinical applications at scale.
• Evaluate and integrate AI/ML approaches, such as evidence extraction from literature, disease-to-gene mapping, and application of ACMG/AMP evidence guidelines, into production pipelines.
• Monitor and benchmark the performance of automated pipelines against real-world outcomes, such as ClinVar reclassifications, over time.
• Work cross-functionally with engineers to build APIs and data interfaces that connect secondary NGS outputs, such as VCFs and structural variant calls, to internal clinical reporting tools.
• Lead analytical validation studies, evaluating sensitivity, specificity, and reproducibility, to support CLIA/CAP compliance and LDT filings.

Connaissances

Bioinformatics

Genomics

ACMG/AMP guidelines

SQL

Python

Communication

Formation

Ph.D. in Bioinformatics/Computational Biology/Related field

Outils

SQL

Python

Description du poste

Helix is seeking a Staff Bioinformatics Scientist to bridge genomic variants and clinical answers, acting as the scientific authority on automation and AI for gene and variant curation. You will collaborate with product, clinical, and engineering leaders driving genomic medicine forward.

The role emphasizes design of automated annotation, integration of AI/ML, and conducting validation studies to support CLIA/CAP compliance and LDT filings, with cross-functional API work and scalable pipelines.