Clinical Variant Scientist (Molecular Genetics)

About 3billion

3billion is a leading genetic diagnostic company dedicated to ending the diagnostic odyssey for children and other patients with rare genetic diseases. We are a global pioneer in AI-driven genetic diagnostics, leveraging our proprietary bioinformatics pipeline to deliver rapid, accurate Exome (ES) and Genome Sequencing (GS) tests. Having successfully served patients and physicians in over 75 countries, we are now entering a new chapter: launching our first US clinical laboratory in Austin, Texas. Joining now means founding-team ownership: you will help build our US lab's people, processes, and culture from day one, backed by a platform already delivering results worldwide. We are looking for a skilled Clinical Variant Scientist to join our foundational US team. If you are deeply passionate about Mendelian genetics and want to use your expertise to translate complex genomic data into life-changing clinical insights for children and families, join us. Discover more about our global impact at https://3billion.io/ (opens in a new tab)

Role Overview

As a Clinical Variant Scientist, you are the crucial bridge between raw sequencing data and a patient's diagnosis. Working within our AI-driven bioinformatics pipeline, you will investigate highly complex ES and GS data to identify disease-causing variants. You will meticulously evaluate variants using standard ACMG/AMP and ClinGen guidelines, curate scientific literature, and draft clear, actionable clinical reports. You will report directly to the Director of Clinical Genomics and work closely with our Clinical Laboratory Director (LD). Your detailed analysis will form the foundation of the final diagnostic report sent to physicians and patients.

Core Responsibilities

• • Variant Interpretation & Phenotype Correlation: Systematically evaluate ES/GS genomic variants using standard ACMG/AMP and ClinGen frameworks. Curate evidence from public databases (ClinVar, gnomAD, OMIM) and primary literature to accurately correlate patient phenotypes with genetic etiologies, including trio-based analysis of de novo and inherited variants in pediatric patients.
• • Clinical Reporting & Case Consensus: Synthesize complex genetic findings into clear, clinical utility-driven first-draft diagnostic reports for the Laboratory Director's final review and sign-off. Participate in multidisciplinary case conferences with the LD, Genetic Counselors, and scientific teams to discuss challenging cases and ensure the highest diagnostic accuracy.
• • Data Stewardship & System Optimization: Manage internal laboratory knowledge bases and contribute curated data to public knowledge bases (e.g., ClinVar). Provide expert scientific feedback to continuously improve our proprietary AI-driven interpretation software.

Required Qualifications

• • Education: Ph.D. in Human Genetics, Molecular Biology, Bioinformatics, or a closely related scientific discipline, or a Master's degree in Genetic Counseling from an ACGC-accredited program.
• • Experience: Minimum of 1 year of hands-on experience in clinical genomic data analysis, variant interpretation, or curation (postdoctoral or fellowship experience applicable).
• • Regulatory & Scientific Alignment: Candidates must possess the appropriate educational qualifications, documented training, and experience to satisfy the laboratory staffing requirements for high-complexity testing.
• • Scientific Knowledge: Deep, working knowledge of Mendelian genetics, human inheritance patterns, rare disease biology, and ACMG/AMP classification frameworks.
• • Communication: Exceptional written communication skills with the ability to translate complex scientific data into accessible clinical language.

Preferred Qualifications

• • Clinical Diagnostics Experience: Hands-on experience in a CLIA-certified, CAP-accredited clinical diagnostic laboratory performing variant interpretation using ACMG/AMP guidelines.
• • Database Proficiency: Proficiency in navigating publicly available genomic databases (e.g., ClinVar, HGMD, gene-specific databases, gnomAD, UCSC Genome Browser).
• • Technical Familiarity: Understanding of NGS wet-lab workflows, LIMS, and bioinformatics pipelines.
• • Reporting: Experience writing clinical reports for rare genetic diseases.
• • Pediatric Rare Disease: Experience analyzing pediatric ES/GS cases, including trio analysis and phenotype-driven (HPO) review.

Why Join Us? (Compensation & Benefits)

We offer a competitive compensation package and, through a US Professional Employer Organization (PEO), comprehensive benefits:

• • Medical, Dental, and Vision coverage for you and your family
• • 401(k) retirement plan
• • PTO, paid sick leave, and company holidays

3billion US, Inc. is an Equal Opportunity Employer. We consider all qualified applicants without regard to race, color, religion, sex (including pregnancy), sexual orientation, gender identity, national origin, age, disability, genetic information, veteran status, or any other characteristic protected by law.

If you need a reasonable accommodation to apply or interview, contact jobs@3billion.io.

Employment offers are contingent on a background check, conducted after a conditional offer and in accordance with applicable law, including the Fair Credit Reporting Act. The check includes verification of education, licensure, and certifications.