Clinical Genomic Variant Analyst

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 laboratory's 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:

-Master's 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