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About the MacArthur Lab. We are a tight-knit research group jointly based as Massachusetts General Hospital and the Broad Institute of Harvard and MIT, and leveraging the largest genomic data sets in the world and cutting-edge analysis methods to make sense of human genetic variation.

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Projects include identifying human knockouts, leveraging large human genetic data sets for drug target discovery, and improving the diagnosis of rare disease patients.

Rare Disease Group Software Engineer: Clinical Genomic Variant Curator: Rare Disease Group This position is an opportunity to play a critical role in the development of large resources to improve the understanding of the function and disease impact of human genetic variants.

Directly analyze exome and genome data for identification of disease-causing variants, using existing and newly-developed analysis tools through in-house software seqr , for hundreds of rare disease families.

Present results and progress at regular team and other Broad Institute meetings. Manage interactions with several research, industry and clinical collaborators to facilitate information exchange regarding variant classification. Participate in education and mentorship of other staff and collaborators through direct interaction and presentations. Involvement in abstract, figure, and manuscript preparation and submission, and presentations at local or national professional conferences.

Basic understanding of human genetics and next-generation DNA sequencing. Familiarity with genomic data, tools and databases.

Excellent communication, both written and verbal. Outstanding oral presentation skills. Demonstrated attention to detail and analytical skills.

Strong organization and time management skills. Highly collaborative and able to work well in a team. Previous experience in variant interpretation is advantageous but not required.

Candidates who can make at least a two-year commitment preferred. Consent project participants through phone and video interactions. Prepare and execute required consent and other regulatory documentation. Schedule appointments with participating families who have signed up to participate online.

Track samples and data collected and generated as part of the project. Obtain, compile, and enter demographic, clinical, and necessary study data into a database. Assist with requesting medical records from participants, extract information from their medical records, and enter information into a database.

Maintain confidential, accurate, and detailed study participant records. Experience in a clinical research or other healthcare setting is preferred; prior consenting experience appreciated but not required. Must be detail oriented and extremely self-motivated, with the ability to effectively manage time and prioritize workload. Excellent organization, communication, and time management skills required. Strong interpersonal skills with ability to effectively interact with families and all levels of staff and external contacts.

Ability to work both independently and as part of a multidisciplinary team in a fast-paced and challenging work environment, and respond to shifting priorities. Must possess a high level of initiative. Must have computer skills, including the use of Microsoft Office and Adobe Acrobat. Sponsored - save job.

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