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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. We’re committed to open data and open-source code, as well as experimenting with new methods of communication. Working with us is a chance to learn from experts in computational biology, large-scale genomics, variant interpretation, software development and clinical genomics, as well as to make a difference to the lives of hundreds of families affected by rare diseases.


Clinical Genomic Variant Analyst

We are searching for an enthusiastic analyst to interpret rare disease exomes and genomes in order to identify causal candidate genes and variants at the CMG and RGP. This will involve using our in-house exome analysis software to analyze and interpret genetic variation in families to diagnose patients with rare disease. The analyst will also manage and coordinate activities for their respective rare disease cohorts, working closely with a set of clinical collaborators from around the world. 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 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 hundreds of families affected by rare, severe diseases.

Primary responsibilities for the role include:

    • 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.
    • Perform clinical correlation of gene/variant with patient phenotype, scientific literature review, and variant classification using ACMG criteria.
    • Manage interactions with several research and clinical collaborators to facilitate information exchange to help diagnose cases and to confirm new candidate variants and genes.
    • Participate in education and mentorship of other analysis 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 Genetic Counseling/Human Genetics from an ABGC accredited Program OR other relevant discipline or equivalent experience required
    • Experience in rare disease analysis and variant interpretation
    • Basic understanding of human genetics and next-generation DNA sequencing
    • Familiarity with genomic data, tools and databases
    • 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
    • Programming experience not required, but some experience in Python, R, and Unix would be advantageous

Please apply via Broad Institute careers site.

Software Engineer: Genome Aggregation Database

We are seeking a creative, self-motivated software engineer with a passion for visual information design. The candidate will work closely with a team of scientists to create web applications for exploring complex genetic datasets. More specifically, we will be carrying out an analysis of the largest collection of human genomes and exomes ever assembled, with the goal of understanding how DNA sequence variation relates to human physiology, traits, and susceptibility to disease. Our catalogue currently contains about half a billion genetic variants found in two hundred thousand people of diverse ancestry, and we expect that this resource will grow to surpass one million sequenced humans over the next three years.

In this role, you will join a world-class research institute and work closely with a tightly knit team of scientists, software engineers, computational biologists, medical doctors, and geneticists. Your code will be 100% open source, and you will play a critical part in making our results accessible to the larger scientific community. To date, our resources have been used by tens of thousands of researchers and physicians around the world who strive to understand the molecular basis for disease.

Key to our success is growing a strong team with a diverse membership who foster a culture of continual learning, and who support the growth and success of one another. Towards this end, we are committed to seeking applications from women and from underrepresented groups. We know that many excellent candidates choose not to apply despite their capabilities; please allow us to enthusiastically counter this tendency. If you are a software engineer who is eager to grow professionally and to contribute to our team culture and to participate in high-impact, open science, then we encourage you to apply.

Responsibilities for this role include:

    • Collaborating closely with researchers to develop performant web applications for effectively displaying the results of our analysis.
    • Participating in the design process.
    • Engineering a React component library that will be reused in multiple genomics projects across the Broad Institute.
    • Creating elegant APIs and efficient NoSQL database queries.
    • Manipulating large datasets using distributed cloud technologies.
    • Deploying web applications using container orchestration.

Characteristics and Qualifications:

    • Ability to write clean, modern Javascript and Python.
    • Experience developing web applications using a popular Javascript framework.
    • Comfortable working with some of the following technologies: React, Redux, CSS, D3, GraphQL, Elasticsearch, Node.js, Python, Hail, Docker, Kubernetes, Google Cloud Platform.
    • Excited to learn new domains of knowledge.
    • Familiar with Git and modern team-based software development practices, including peer code review through pull requests.
    • Eager to maintain an open-source project and respond promptly to user issues or inquiries.
    • Manages time well and is able to respond to shifting priorities in a fast-paced and rapidly changing environment.
    • Actively engages with team members to develop and refine software.
    • If possible, the candidate should provide a link to an online portfolio, open source project, or web application they have contributed to in their cover letter.

Please apply via Broad Institute careers site.


Post-doctoral Fellows

We are looking for postdoc candidates with backgrounds in computational genomics or statistical genetics, ideally with direct experience in analyzing human sequencing data. Projects include identifying human knockouts, leveraging large human genetic data sets for drug target discovery, and improving the diagnosis of rare disease patients. Most importantly, we’re looking for people who are passionate about the translation of genomics into clinical practice, and have the right personality to work in a fast-paced and highly collaborative environment.

To apply, email Daniel with your CV.