Genome Variant Scientist
Curative is a diagnostic startup and a leading provider of COVID-19 testing, providing 5% of all US coronavirus tests. As the company continues to grow, we are looking for fast moving individuals for the development of diagnostic assays in human genomics. The person selected for this position will be a member of the NGS group within Curative’s R&D team.
Primary responsibilities include:
- Manage scientific data flow and warehouse big data sets arising from high-speed development efforts and clinical testing.
- Review, curate, interpret and classify genetic variants according to the internal and professional guidelines.
- Review literature and databases to evaluate gene-disease association.
- Review and update genetic variations based on new information.
- Assist with report generation for high complexity genetic tests in collaboration with genetic directors.
- Follow genetics, functional genomics, bioinformatics literature and maintain awareness of desirable and state-of-the-art annotations and methods.
- Participate in research & development projects as they arise.
- Adhere to the documentation practices and procedures, ensuring the level of data traceability required for regulatory compliance.
- PhD degree in Genetics, Genomics, Molecular Biology, or related field with strong understanding of next-generation sequencing, or a Masters Degree with at least five years of experience.
- Hands-on experience with processing and interpretation of high-throughput next generation sequencing and possessing strong data management and analysis skills.
- Demonstrated expertise in at least two programming language (R, Python, Go, C++), proficiency in Linux environment, version control tools, and reproducible research practices.
- An understanding of bioinformatics analysis to identify variants within genomic data sets, and variant effect prediction algorithms.
- Experience using public databases, tools, and resources, such as NCBI, EBI, UCSC, IGV.
- The ability to critically read, understand, and interpret data from scientific publications.
- Thorough knowledge of principles and practices of computational biology as applied to genetics/genomics and current theories and principles of human genetics.
- Experience with tools and methods for predicting functional consequences of genetic variants (Annovar, VEP, snpEff, etc) and underlying models and data sources.
- Proven ability to critically read and interpret scientific literature.
- Excellent organizational and oral/written communication skills.
- Prior experience in variant assessment and reporting specialty preferred.
For a safe working environment during a pandemic, the candidate must be willing to test for
SARS-CoV-2 daily upon hiring.
Curative Inc. is an Equal Employment Opportunity (EEO) employer. It is the policy of the Company to provide equal employment opportunities to all qualified applicants without regard to race, color, religion, sex, sexual orientation, gender identity, national origin, age, protected veteran or disabled status, or genetic information.