Claritas Genomics is seeking a motivated Bioinformatics Analyst to help accelerate next-generation sequencing into clinical diagnostics. Within the Bioinformatics Group, the candidate will help evaluate NGS and other technologies for their clinical and research feasibility, conduct validation studies of developed assays, and monitor quality control and performance metrics of production operations. The candidate will be responsible for rigorous data analysis and clear informatics communications.
As a member of the Bioinformatics Team, the candidate will:
- Design, plan, and perform specific bioinformatics experiments and projects for technical feasibility assessment, product development, and assay validation.
- Develop, characterize and optimize bioinformatics tools and resources to support existing and emerging products.
- Develop novel bioinformatics methods and algorithms to support emerging product development.
- In collaboration with clinical colleagues, collect and assess genomic regions of interest targeting known, disease-associated genes and their variants.
- Assess the quality of databases of variation, annotation, and interpretation.
- Perform in-depth analyses of software pipelines including assessment of quality control metrics, variant calling, scoring and filtering, and integration of orthogonal confirmation strategies.
- Write custom analysis code and contribute to production pipeline code.
- Manage the sample flow through clinical production bioinformatics pipeline
- Work closely with the clinical lab and R&D department to support process automation and data analysis.
- Lead data analysis and write-ups to validate new assays
- Write and maintain SOPs to describe production bioinformatics workflows
- Bachelors or Masters in computer science, computational biology, biostatistics, bioinformatics, or related field.
Desired Skills and Experience:
- Coding experience in Java (or similar) and Python on a UNIX platform, with analysis language (R or similar). Experience in team-based software development, test-driven development and Amazon AWS are desirable
- Bioinformatics for NGS DNA sequencing, as well as variant sciences including disease association studies, population analysis, and NGS technology comparisons
- Familiar with commonly used Bioinformatics tools and APIs: SAMtools, GATK, Picard, Bedtools, BWA, Bowtie2, Pindel, IGV, TopHat
- Familiar with commonly used reference databases, tools, and browsers: Cosmic, ClinVar, Entrez, Ensembl Genes, ClinGen, Encode, HGMD, 1000 Genomes, ESP, HapMap, UCSC Genome Browser, Annovar, Alamut, PolyPhen, SIFT
- Can work independently, solid problem-solving skills
- Excellent written and verbal communication skills; must be able to achieve success in a multidisciplinary team environment
- Experience in a clinical molecular diagnostic laboratory or regulated product development environment is preferred.
Please send r?sum?s to [email protected]