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BillionToOne is seeking an experienced Clinical Genomics Scientist to support variant curation and data analysis for our prenatal laboratory. This is a full-time, remote position suited for a highly skilled professional with expertise in carrier screening and a strong knowledge of CFTR, SMN1, HBB, HBA1, and HBA2.
Job Responsibility:
Germline Variant Curation: Conduct comprehensive reviews and classifications of newly identified variants, as well as reassess previously classified variants as needed
Curation Policy Development: Collaborate closely with clinical genomics scientists, laboratory directors, genetic counselors, and other stakeholders to develop and refine variant curation policies in alignment with industry best practices and society guidelines
Data Analysis & Interpretation: Leverage human mutation databases, functional annotation resources, and genomic browsers to facilitate accurate variant classification and reporting
Requirements:
Ph.D. in Human Genetics or a closely related field
Strong preference for candidates with experience in variant curation for carrier screening panels
Extensive experience in curating variants within CFTR, HBB, HBA1, and HBA2 is highly desirable
Proven ability to classify variants efficiently while maintaining accuracy within tight turnaround times
What we offer:
Working alongside brilliant, kind, passionate and dedicated colleagues, in an empowering environment, toward a global vision, striving for a future in which transformative molecular diagnostics can help millions of patients
Open, transparent culture that includes weekly Town Hall meetings
The ability to indirectly or directly change the lives of hundreds of thousands patients
Multiple medical benefit options
employee premiums paid 100% of select plans, dependents covered up to 80%
Extremely generous Family Bonding Leave for new parents (16 weeks, paid at 100%)
Supplemental fertility benefits coverage
Retirement savings program including a 4% Company match
Increase paid time off with increased tenure
Latest and greatest hardware (laptop, lab equipment, facilities)
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