Bioinformatics Scientist

Organization: 
Claritas Genomics
Job Location: 
Cambridge, MA
Benefits: 

Excellent benefits including 401K match

Job Description: 

Claritas Genomics is seeking a motivated Bioinformatics Scientist to help accelerate next-generation sequencing for pediatric 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 effective experimental design, rigorous data analysis, and clear informatics communications.

As a member of the Bioinformatics Team, you will:
• Design, plan, and perform specific bioinformatics projects for technical feasibility assessment, product development, assay validation, and operations evaluation.
• 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 needs (ex. CNV, SVs, RNA, etc.)
• 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 sources of failure and development of mitigation strategies. These analyses will include 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.

Requirements: 

PhD in computer science, computational biology, biostatistics, bioinformatics, or related field (MS acceptable for the candidate with the right experience).

Desired Skills and Experience:
•Strong software engineering experience in Java or C++ on a UNIX platform, with scripting and analysis language (Python, R). 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
•Excellent written and verbal communication skills to work successfully in a multidisciplinary team environment
•Experience in a clinical molecular diagnostic laboratory or regulated product development environment is preferred.

Contact Information: 

Please send inquires to jobs@claritasgenomics.com

About Our Organization: 

Claritas Genomics is a CLIA-certified genetic diagnostic testing company that combines the power of genetic analysis technology with the clinical expertise of the world’s best pediatric specialists to inform and improve patient care. Claritas offers a range of services that take the guesswork out of test ordering and support clinicians as they navigate an increasingly complex landscape of genetic diagnostics. Our interpretive services are based on the most up to date and reliable findings and our reports are designed to clearly communicate this complex information. Originally Boston Children’s Hospital’s CLIA-certified molecular testing laboratory, and launched as an independent CLIA laboratory in February 2013, we have comprehensive tests, with new next-generation sequencing-based services being added to our menu on a regular basis.