Variant Curation Scientist (Contract - Part Time)

Do you want to join one of the fastest-growing molecular diagnostics startups and develop products that can affect the lives of millions?

BillionToOne (Y Combinator S17), ranked at the top 5% of Y Combinator companies with $100M+ in funding from prominent VC firms, has developed a DNA molecular counter that increases the cell-free DNA diagnostics resolution by over 1,000 fold. BillionToOne's first product, UNITY™ is the first and only prenatal screen that directly assesses the baby's risk for common and severe inherited disorders such as cystic fibrosis, spinal muscular atrophy (SMA), and hemoglobinopathies from a single tube of blood from the pregnant mother.

BillionToOne is looking for a Variant Curation Scientist (Contract) to lead our germline variant curation work. We have a small carrier screening panel (CFTR, SMN1, HBB, HBA1, HBA2) and we are looking for an experienced variant curation scientist to lead the curation efforts on a part-time basis (10-15 hours/week). The Variant Curation Scientist position is a remote position and does not have set hours.

Key Responsibilities:

• Germline variant curation: Review and classify new variants and variants that are due for re-classification on a regular basis
• Curation policy development: Work closely with lab directors, genetic counseling team, and other related functions to develop and modify the variant curation policy in accordance to society guidelines

Requirements

• 3+ years of experience in germline variant curation at high volume clinical laboratories
• Hands-on experience working with human mutation databases, functional annotation sources, and genomic browsers
• Excellent communication skill and ability to work collaboratively with cross-functional teams
• Ph.D. in Human Genetics or appropriately-related field
• Experience in variant curation for carrier screening panel is strongly preferred
• Ability to work 10h/week consistently and can classify variants with short turnaround time (within 2-4 business days)