Variant Scientist - Genomics

Organization
Claritas Genomics, Inc.
Job Location
Cambridge, MA 02139
Job Description

Claritas Genomics seeks a full-time Variant Scientist in our clinical molecular genetics team who will contribute to our mission of providing world class clinical genomic information to patients and providers.

The successful candidate will join our clinical team providing full-service pediatric, next-generation molecular diagnostics services.  

Roles and Responsibilities

  • Apply expertise towards genomic variant curation, classification and interpretation; put into the context of relevance to human genetic disorders
  • Support consistent and rigorous variant interpretation practices
  • Work cross-functionally to identify and support improvements in variant interpretation processes
  • Seek and implement opportunities for increased throughput and efficiency
  • Work collaboratively with the other members of the clinical team to ensure timely and accurate result return to our clients
  • Define processes and write SOPs for variant curation
  • Support projects for development of new test offerings and gene-level curation
Requirements

Requirements

  • MS or PhD in human genetics, or molecular biology
  • 1-3 years of experience (industry or clinical) with variant interpretation or relevant qualification

 

Preferred Experience/Skills

  • In depth knowledge of molecular genetics and evaluation of variants for their relationship to human disease
  • Ability to thoroughly and accurately evaluate scientific literature
  • Familiarity with variant databases, genome browsers, and HGVS nomenclature
  • Experience in a clinical genetics laboratory and/or pediatric clinical setting
  • High attention to detail, ability to multi-task and adapt to change
  • Excellent organizational and time-management skills
  • Comfortable in a fast-paced, dynamic team environment
  • Process and efficiency oriented with good analytical and problem solving skills
About Our Organization

Claritas Genomics is a CLIA-certified genetic diagnostic testing company combining 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 taking the guesswork out of test ordering and supports 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.

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