Job Description

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. The Broad Institute is accumulating data sets of genetic variation of unprecedented scale, covering a wide range of human ancestries, technologies, and disease areas, and spanning hundreds of thousands of people. This role would involve work on the Genome Aggregation Database (gnomAD; gnomad.broadinstitute.org), the world's largest reference database of sequenced humans, led by Heidi Rehm and Mark Daly, and on the Broad's Center for Mendelian Genomics, an NIH-funded collaborative venture focused on discovering new disease genes, and the Rare Genomes Project (https://raregenomes.org/), a direct-to-patient genome sequencing initiative providing diagnoses to rare disease families across the US, both co-led by Heidi Rehm and Anne O'Donnell-Luria. Our mission is to create open resources for scientists and clinicians, and to use these resources to improve rare disease diagnosis, discover new disease genes, understand the functional impact of genetic variation, and empower the basic and clinical genomics community worldwide.

We are searching for an enthusiastic variant curator to research and classify genetic variants identified through gnomAD, public databases (i.e. ClinVar), and our rare disease genomics efforts. This will involve using ClinGen's variant curation tool, as well as other third party tools, and internally-developed software to determine a variant's pathogenicity. The curator will also have the opportunity to use our in-house software to analyze and interpret genetic variation in families to diagnose patients with rare disease. In addition, he/she will work in close collaboration with other members of our team, which includes analysts, genetic counselors, clinicians, computational biologists, software engineers, and project managers.

The candidate should have a strong background in genetics or a related discipline, have fluency in human disease genetics, have good attention to detail and be able to adapt quickly and be part of a cross-functional team in a rapidly changing environment.

This is an opportunity to work at the interface between large-scale genomics, informatics, and disease genetics, and to have an impact on the lives of thousands of families affected by rare, severe diseases.

Primary Responsibilities:

• Perform clinical correlation of gene/variant with patient phenotype, scientific literature review, and variant classification using ACMG criteria.


• 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.

Characteristics and Qualifications:

• Undergraduate degree in biology, genetics, or related field OR Master's degree in Human Genetics OR other relevant discipline or equivalent experience required


• 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

The Broad Institute will not offer Visa sponsorship for this opportunity.

All qualified applicants will receive consideration for employment without regard to race, color, religion, sex, sexual orientation, gender identity, national origin, disability or protected veteran status.

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