Remote Lead Bioinformatics Scientist, Clinical Apps

Helix; United States; Remote; USD 146,000 - 196,000; Full time

Benefits offered by this job

Health Insurance

Parental Leave (12 weeks)

401(k) with matching up to 3%

Well-Being Benefits

Flexible PTO

Remote options + home office stipend

Job summary

Helix is seeking a Staff Bioinformatics Scientist, Clinical Applications, to bridge genomic variants and clinical decisions at scale. You will lead automated annotation, evidence synthesis, and pre-classification of germline variants, interfacing with product, clinical, and engineering teams to advance genomics in care.

You will evaluate AI/ML approaches for feasibility and impact, monitor pipeline performance, and drive analytical validation for regulatory compliance.

Qualifications

• Ph.D. in Bioinformatics or related field with 5+ years of clinical genomics experience.
• Deep expertise in human genetics and variant interpretation guidelines (ACMG/AMP).
• Proficiency with VCF and data tools such as SQL and Python.
• Ability to evaluate ML/LLM approaches for feasibility and impact.
• Strong communication of technical tradeoffs to cross-functional teams.

Responsibilities

• Design and prototype automated annotation, evidence synthesis, and pre-classification of germline variants for clinical use.
• Evaluate AI/ML approaches to support production pipelines and evidence extraction.
• Monitor performance of automated pipelines against real-world outcomes (ClinVar reclassifications).
• Collaborate with engineers to connect NGS outputs to clinical reporting tools.
• Lead analytical validation studies to support CLIA/CAP compliance and LDT filings.

Skills

Genomics knowledge

ACMG/AMP guidelines

ClinVar/gnomAD familiarity

SQL

Python

Communication

AI/ML evaluation

Vcf file formats

Education

Ph.D. in Bioinformatics / Computational Biology / Human Genetics

Tools

VCF

Job description

Helix is seeking a Staff Bioinformatics Scientist, Clinical Applications, to bridge genomic variants and clinical decisions at scale. You will lead automated annotation, evidence synthesis, and pre-classification of germline variants, interfacing with product, clinical, and engineering teams to advance genomics in care.

You will evaluate AI/ML approaches for feasibility and impact, monitor pipeline performance, and drive analytical validation for regulatory compliance.