Clinical Genomic Variant Analyst
Clinical Genomic Variant Analyst
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Salary Not Disclosed
1 Vacancy
Job Description
General information
Description & Requirements
The Broad Clinical Labs (BCL) is a CLIA licensed CAP accredited clinical laboratory providing physicians and physician-researchers with high quality molecular tests. We are searching for a variant curation scientist to support the BCL laboratorys current clinical tests including germline whole genome and blended genome exome with interpretation. This position will be involved in genomic case analysis and variant classification and work in close collaboration with other members of the BCL and Translational Analysis Group (TAG) teams which include analysts clinicians/providers computational biologists software engineers senior laboratory personnel and account/project managers. The candidate should have a strong background in clinical genetics and/or genetic counseling or a highly-related discipline have fluency in human disease genetics have excellent attention to detail and be able to adapt quickly and be part of a cross-functional team in a rapidly changing environment. The clinical genomic variant analyst will support projects for clinical research clinical trials and clinical diagnostics. This is an opportunity to play a role in large-scale genomics informatics and disease genetics as well as contribute to the development and implementation of transformative new clinical tests that could impact patients on an individual basis.
Primary Responsibilities:
-Directly analyze exome and genome data for identification of disease-causing variants using existing and newly-developed analysis tools and draft clinical reports
-Assess maintain and improve variant annotation and filtration capabilities
-Present results and progress at regular team and other Broad Institute meetings
-Support data quality review and release of data
-Support development and validation of new clinical assays Involvement in abstract figure and manuscript preparation and submission and presentations at local or national professional conferences
Requirements:
-Masters Degree in Genetic Counseling/Human Genetics/Genomics from an ABGC accredited Program OR other relevant discipline or equivalent experience required
-Seeking 4 years of professional experience
-Experience in genomic case analysis and variant classification for germline disease using ACMG/AMP guidelines is a must
-A deep understanding of human genetics including next-generation DNA sequencing and other molecular laboratory methods
-Demonstrated attention to detail and analytical skills
-Excellent communication skills
-Excellent organization and time management skills
-Highly collaborative and able to work well in a team
-Desire to contribute to a fast paced exciting work environment
Required Experience:
IC
Employment Type
Full Time
