Research Scientist / 40 Hours / Day / BWH - partners personalized Medicine

Brigham and Women's Hospital Cambridge, MA
GENERAL SUMMARY/ OVERVIEW STATEMENT:

The Laboratory for Molecular Medicine (LMM) at Partners HealthCare Personalized Medicine is seeking a motivated individual to work in a cutting-edge environment to serve as a variant scientist on our Genomic Curation Team. The LMM is a leading molecular diagnostic laboratory that supports clinicians and researchers at Massachusetts General Hospital and Brigham and Women's Hospital, as well as serving as a reference laboratory for national and international institutions. The LMM is also functions as a clinical laboratory and genomic interpretation center for translational research grants.

The Genomic Curation Team is responsible for maintaining excellence and innovation for our clinical testing operations and translational research grants, including panel-based testing, exome sequencing, and genome sequencing. Team members provide thorough review of all data on variants identified during the testing process, using detailed evidenced-based rules for variant classification. The team also performs gene assessment to evaluate the evidence and validity of gene-disease associations. This position would also help to innovate and scale the curation efforts within the laboratory.

The Variant Scientist position will interact with geneticists, genetic counselors, fellows within the ABMGG and MGP fellowship programs, bioinformaticians, and other laboratory and clinical staff. Opportunities to publish manuscripts with LMM staff and/or external investigators may also be a possibility.

PRINCIPAL DUTIES AND RESPONSIBILITIES:

1.Perform variant and gene assessments

a.Research the significance of variants

b.Evaluate the evidence for gene-disease associations

c.Perform literature and data review

2.Develop a unique knowledge base

a.Become an expert in variant sciences

b.Develop an in-depth understanding of the molecular aspects of human diseases

c.Develop a knowledge of testing technologies used in the laboratory

d.Provide education to lab staff about variant sciences as needed

3.Support other projects related to genetic and genomic testing and research

Ph.D. in genetics, biology or related field

SKILLS/ ABILITIES/ COMPETENCIES REQUIRED:

* Ability to balance and manage multiple tasks and projects independently; detail-oriented, excellent organizational skills.

* Ability to interact effectively with international network of laboratories and data sources.

* Independence, initiative, and problem-solving ability.

* Knowledge of genetics and genomics

WORKING CONDITIONS:

Clinical and research laboratory with extensive use of computers and online resources.

SUPERVISORY RESPONSIBILITIES:

May have supervision of students and interns.