Bioinformatics Analyst/Scientist

Organization
Claritas Genomics
Job Location
99 Erie St
Cambridge, MA 02139
Salary
Based on experience
Benefits

We are an equal employment opportunity employer offering a competitive salary and comprehensive benefits package, including stock options, a 401(k) retirement plan as well as health and dental insurance.

Job Description

Claritas Genomics is seeking a motivated Bioinformatics Analyst or scientist to help accelerate the integration of next-generation sequencing into clinical diagnostics and precision care.  Within the Bioinformatics Group, the candidate will help with processing of clinical production samples, conduct validation studies of new assays, and monitor quality control and performance metrics of production operations. The candidate will be responsible for rigorous data analysis and clear informatics communications. While the primary need is for an entry-level individual, qualified applicants at all levels will be considered. The unique mix of genetic and sequencing technologies available at Claritas will provide opportunities for informatics analysts/scientists seeking the broadest experience available.

Responsibilities:

As a member of the Bioinformatics Team, the candidate will:

  • Manage the sample flow through clinical production bioinformatics pipeline, including sample tracking and communication with clinical interpretation team
  • Work closely with software, clinical lab and R&D groups to support process automation and data analysis
  • Lead data analysis and write-up for validation of new/updated assays
  • Write and maintain SOP’s (Standard Operating Procedures) to describe production bioinformatics workflows
  • Write custom analysis code and contribute to production pipeline code
  • Perform analyses of software pipelines including assessment of quality control metrics, variant calling, scoring and filtering, and integration of orthogonal confirmation strategies
  • 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 methods to support existing and emerging products
Requirements
  • Bachelors or Masters in computer science, computational biology, biostatistics, bioinformatics, or related field
  • Proficiency working in UNIX/Linux platforms
  • Familiarity with commonly used Bioinformatics tools and APIs: SAMtools, GATK, Picard, Bedtools, IGV
  • Familiarity working in Amazon AWS environment a strong plus
  • Scripting experience in Python, R or similar technology on a UNIX platform
  • Experience coding in Java and familiarity with team-based software development, agile development, and test-driven development are desirable
  • Familiarity 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 with minimal supervision; proven and 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
  • Ability to succeed in a fast-paced and dynamic work environment

 

About Our Organization

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate diagnosis, resolving families’ long search for answers. Our goal is to radically change the field of pediatric genomic medicine by enabling the integration of genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.

Claritas was spun out of Boston Children’s Hospital in 2013 to become a world-class, commercial genetic diagnostic business and is now located in Cambridge, MA. At the outset, our strategic investors included Cincinnati Children’s Hospital Medical Center, Thermo Fisher (original investment from Life Technologies), and Cerner Corporation. WuXi-NextCODE became an investor in 2014. 

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