Job Openings

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.

Software Engineer: gnomAD browser and related portals.

The MacArthur Lab software engineering team is building the tools necessary to visualize and interpret massive data sets of human genetic variation and functional genomic information. We have developed several portals, including the ExAC and gnomAD browsers (, which are now widely used across the genomics community. Your role will be to use the gnomAD browser as a starting point to develop new tools that present datasets from large-scale autism and schizophrenia studies, providing the complex disease community with new ways of interacting with data from very large disease association studies. You will work with a team of software engineers and computational biologists to develop new features, create visualizations, and incorporate user feedback.Software engineering skills and an interest in user interface design and data visualization are key. Basic familiarity with genomics and DNA sequencing data is preferred, but not required. Most importantly, the ideal candidate will have enthusiasm for learning new domains and the ability to write exceptional software.Requirements:

  • Bachelors/Masters/PhD degree in Computer Science or related field
  • Highly collaborative and able to work well in a team
  • Ability to build high-quality web-based applications
  • Proficiency in javascript and python
  • Experience working with databases
  • Experience with Django, Flask, D3, React.js frameworks a big plus
  • Experience with bioinformatics datasets and analyses a big plus
  • Excellent communication skills
  • Demonstrated attention to detail and analytical skills

Please apply via the Broad Institute careers site.

Software Engineer: rare disease genomics.

The MacArthur lab has initiated two large-scale projects – the Rare Genomes Project ( and the Broad Center for Mendelian Genomics ( – that aim to significantly improve our ability to diagnose families affected by rare genetic conditions. As part of these efforts, we are building a scalable, service-based online platform called seqr ( in order to integrate the latest research and address remaining challenges in diagnosis. seqr is already being used by an international consortium of collaborating clinicians, researchers, and industry partners, and has enabled us to diagnose more than 1,000 families from all over the world.

We are looking for software engineers and computational biologists to help us scale seqr to tens of thousands of families, build intuitive visualizations and user interfaces (using javascript, React.js, and D3), integrate new kinds of datasets (elasticsearch, PostgreSQL, python and Django), as well as incorporate new analysis methods. As our team works together on these challenges, there will be opportunities to take on leadership roles and propose new solutions. We welcome applicants from a diverse set of backgrounds and experience levels. Knowledge of genetics or biology is preferred but not required. The ideal candidate will have strong engineering skills, a desire to learn new domains, and ability to contribute to multiple aspects of seqr development.


  • Bachelors/Masters/PhD degree in Computer Science or related field
  • Highly collaborative and able to work well in a team
  • Interest in working with a wide variety of technologies and on diverse problems
  • Excellent communication skills and ability to work with users to develop and document requirements
  • Experience with python, javascript
  • Experience with Django, Flask, D3, React.js frameworks a big plus
  • Experience with bioinformatics a big plus

Please apply via the Broad Institute careers site.

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. 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 candidate will also manage and coordinate activities for their respective rare disease cohorts, working closely with a set of clinical collaborators from around the world.

This candidate will work in close collaboration with members of the Broad Center of Mendelian Genomics, which includes analysts, genetic counselors, clinicians, computational biologists, software engineers, and project managers. The candidate will present results and progress at regular team and other Broad meetings. The candidate should have a strong background in genetics or related discipline, have fluency with 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.

  • Undergraduate degree in Science, 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.

Clinical Genomic Variant Scientist

We are looking for a talented, detail-oriented clinical analyst who can identify causal variants in known and novel disease genes using genomic analysis software for hundreds of families affected by undiagnosed rare disease.

The Clinical Genomic Analyst will have the opportunity to make a direct impact on families by finding a genetic diagnosis for them. This will involve using our in-house genomic analysis software to analyze and interpret genetic variation in families. The analyst will also have access to detailed medical records, patient-reported information, and will have the ability to re-contact families to obtain additional information to guide their analysis.

Our approach to gene discovery is characterized by deep interactions between our informatics team and clinical team, and by rapid and open sharing of resources and data with the wider rare disease community. Our analysis team benefits from having unique access to individual-level genetic data from the Genome Aggregation Database (gnomAD), the world’s largest collection of exome and genome sequencing data (

Primary Responsibilities:

  • Directly analyze exome, genome and transcriptome data for identification of disease-causing variants, using existing and newly-developed analysis tools, for hundreds of rare disease families.
  • Perform clinical correlation of gene/variant with patient phenotype, variant classification, scientific literature review, and/or report writing for genomic tests for research exome and genome analysis.
  • Close interaction with clinical collaborators to obtain additional information required to diagnose cases and to confirm new candidate variants and genes.
  • Refine and improve analysis workflows and assist in the continued development of standard operating procedures for the analysis team.
  • Participate in education and mentorship of other analysis staff and collaborators through direct interaction and presentations. Responsibilities may include management of junior analysts, including overseeing analysis work and interactions with collaborators.
  • Involvement in abstract, figure, and manuscript preparation and submission, and presentations at local or national professional conferences.


  • PhD in genetics/related field OR Master’s degree in Genetic Counseling/Human Genetics from an ABGC accredited Program OR or equivalent years of experience in the field of variant interpretation.
  • Demonstrated ability to perform rare disease variant interpretation, phenotype assessment/correlation, and report writing with superior attention to detail.
  • Familiarity with genomic data, tools and databases such as UCSC Genome Browser, ExAC/gnomAD, and ClinVar.
  • Comfort reading and interpreting research articles.
  • Solid understanding of genetic analysis methodologies and tools.
  • Experience analyzing next generation sequence data analysis.
  • Technical Experience in Python, R, Unix preferred, but not required.
  • Excellent communication skills.
  • Excellent organization and time management skills.
  • Excellent organization and time management skills.

Please apply via Broad Institute careers site.

Academic Positions

Currently, we have no funded postdoc positions available – details will be updated here as new roles become available.

General Enquiries

We’re always open to enquiries about graduate student or postdoctoral positions. In general, we’re looking for people with a strong computational background capable of dealing with very large genomic data-sets, or with a sufficiently quantitative background to be able to quickly pick up high-level computational skills. Direct experience with DNA or RNA sequencing data is a major plus. 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.