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.

Associate Computational Biologist II

Despite recent advances in genomic technologies, the majority of families affected by rare genetic diseases still cannot be given a precise molecular diagnosis. We are seeking a creative and self-motivated candidate to play a key role in developing computational methods to improve the diagnosis of rare disease. These tools will be applied to thousands of families affected by rare diseases, many of whom have been waiting for many years for a formal genetic diagnosis for their disease, and used to make new discoveries that can then be clinically validated and returned to families.

In this role you will design and implement code to analyze RNA, genome, and exome sequencing data at scale in three essential areas of interest:

  1. Identifying unusual splicing and gene expression in RNA-seq (transcriptome) data to identify genetic causes of previously unsolved rare disease cases
  2. Identifying structural variants in whole-genome sequencing data
  3. Accurately detecting sequence repeat expansions in genome and exome data

Our group is an interdisciplinary team of academic trainees, computational biologists, software developers and other personnel, engaged in the design, development, and deployment of cutting-edge genomic technologies at exceptional scale to characterize and interpret the impact of human genetic variation. As part of our methods development group, you will have the opportunity to make substantial contributions to patients and families affected by rare disease, as well as to participate in the vibrant research environment at the Broad Institute, with its close links to MIT, Harvard, and the Harvard-affiliated hospitals across Boston. You will have access to data sets of unprecedented scale, including genome and exome sequencing data from hundreds of thousands of reference individuals and thousands of rare disease families, and to colleagues with deep expertise in genetics, computational biology, software development, and machine learning.

The responsibilities of this role align closely with the mission of the Broad to transform medicine and human health through cross-disciplinary collaboration and the development of pioneering technologies to analyze scientific data on an unprecedented scale.

Primary Responsibilities:

    • Implementing, benchmarking, and optimizing existing computational algorithms to address research questions and analysis objectives
    • Writing new algorithms to handle data in cases where no satisfactory methods exist
    • Regularly contributing code to our public GitHub repository and participating in team-based code review
    • Monitoring and assessing current, relevant scientific literature related to the group’s analysis aims, in order to understand emerging practices and to ensure the group continues to employ optimal methods
    • Initiating consultations with scientists, software engineers, and mathematicians within and external to the Broad with relevant specific expertise in the course of evaluating existing methods and developing novel ones
    • Soliciting and implementing software feature requests from critical stakeholders, including variant analysts within the group, fellow members of the software engineering and methods development team, external clinical collaborators, and other end-users
    • Designing clear, appealing, and accessible figures, readouts, and/or user interfaces that provide analytical insight into the data for clinical researchers using our online analysis platform; and implementing an automatic workflow for producing such reports
    • Presenting results at regular intervals at lab and project team meetings, including meetings with external collaborators as well as institute, national, and/or international conferences as appropriate
    • Contributing code, figures, and text to team presentations and publications, including, as appropriate, leading and coordinating manuscript writing for the candidate’s first-author publications

Characteristics and Qualifications

The role will require an independent and highly motivated candidate with the ambition to establish a significant body of code that advances the discovery of the genetic causes of rare disease.

You will have an interest in developing domain expertise in computational methods for analyzing next-generation sequencing data, as well as an interest in the technical aspects of deploying these methods at scale.

We are looking for someone who:

    • Is able to write clean, efficient, robust, and usable code, with demonstrated proficiency in one of the following: Linux, Perl, Python, Java, C++, Matlab, or R, with a preference towards Linux, Python, and R
    • Has a BS or MS degree and 0-2 years experience in computer science, engineering, physics, mathematics, statistics, biology, or related fields
    • Has demonstrated experience in quantitative (statistical, mathematical, computational) research with large data sets; skill and experience with statistical analysis and/or computational biology is strongly preferred
    • Has fluency with human genetics and next-generation sequencing data; ideally will have prior experience with algorithms relevant to RNA-Seq analysis
    • Exhibits strong initiative and the ability to take ownership of assigned tasks and projects
    • Listens, communicates, and collaborates well with team members, clinicians, software developers, and research scientists
    • Demonstrates excellent written and oral presentation skills
    • Manages time well and is able to respond to shifting priorities in a fast-paced and rapidly changing environment

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.

Please apply via Broad Institute careers site.

Front End Associate Software Engineer

Our team is focused on 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 gnomAD browser (, 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.


  • Bachelors or Masters 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.
  • Experience with React, Redux, D3, GraphQL, Docker, Kubernetes, Python.
  • Experience with elasticsearch and other NoSQL databases 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 Broad Institute careers site.

Research Associate II: MacArthur/Claussnitzer Lab.

The Claussnitzer and MacArthur Labs, within the Medical and Populations Genetics Programs, have an exciting opportunity for a Research Associate to jointly join their teams. The Claussnitzer group is dedicated to finding novel ways to identify non-coding genetic variants associated with human traits and diseases and the development of scalable pipelines for their systematic functional characterization, including the establishment of variant causality through genome editing and cellular phenotypic assays. The MacArthur Lab ( uses cutting-edge genomic technologies at massive scale to understand the impact of human genetic variation, and to provide answers to families affected by rare genetic diseases. We are seeking a self-motivated individual who will be involved in a wide variety of experiments including genotyping of critical patient samples and the subsequent molecular and phenotypic follow up studies that will provide a deeper understanding of disease risk and biology. The successful candidate will be an integral part of a multi-disciplinary project team whose goals include understanding the role that mutations play in disease using novel genetic perturbation techniques, high content imaging and epigenomic profiling. Experience with basic techniques of molecular biology, specifically designing and executing genotyping experiments, cell culture and/or biochemistry is required. Basic computer skills and previous laboratory experience are required.


  • Perform bench level experiments involving genotyping, cell culture, general molecular biology, CRISPR-Cas9 editing techniques, high content imaging and biochemistry
  • Document, compile, and assist with analyzing and interpreting experimental data
  • Attend and participate in lab and project meetings, including preparing reports and presenting progress
  • Interact and communicate with team members and collaborators
  • Contribute toward publication of scholarly reports


  • Bachelor’s Degree in Cell Biology, Molecular Biology, or Biochemistry, or related field required
  • 3+ years of laboratory research experience, or Master’s Degree with 1+ year of research experience
  • Proficiency in molecular and cell biology techniques and cell culture
  • Ability to quickly learn and apply new tools; willingness to perform new tasks as required
  • Strong analytical skills with a high degree of initiative
  • Creative, dedicated, collaborative and highly motivated individuals
  • Exceptional organizational and time management skills, lab notebook practices and attention to detail
  • Ability to multi-task in a dynamic multi-disciplinary research environment

Please apply via Broad Institute careers site.

Sr. Software Engineer: Hail Team.

The Hail team’s mission is to build tools to enable rapid analysis and exploration of massive genetic datasets (10s of TB and tripling yearly). We are dedicated to open science and everything we do is open source. We currently develop in Scala, Spark, Python and C/C++ but will use any tools we need to get the job done.

You have a strong understanding of data structures and algorithms as well as an ability to quickly write clear, correct code to solve non-trivial but well-defined problems. You will contribute to design and implementation of a distributed system that is transforming the way biologists interact with their data. Key to our success is growing a strong and diverse team whose members enable and support the development and success of one another. Self-improvement is a fundamental part of our culture; we want to grow great engineers.

In the vein of building a diverse team, we are committed to giving equal consideration to candidates from underrepresented groups in software engineering. We know that many excellent candidates choose not to apply despite their capabilities and please allow us to enthusiastically counter this. We encourage applications from software engineers with at least two years of experience who are eager to grow personally and to support the growth of junior team-members.

This position will primarily support the Genome Aggregation Database (gnomAD) project. gnomAD is among the most comprehensive catalogues of human genetic variation in the world, consisting of tens of thousands of whole genomes and hundreds of thousands of exomes contributed by over one hundred research groups. Analysis results are shared publicly and have had sweeping impact on biomedical research and the clinical diagnosis of genetic disorders. gnomAD is set to triple in size this year, presenting major engineering and analytic challenges with huge scientific impact.


  • Work with the team, scientists, and analysts with diverse expertise to realize transformative scientific goals
  • Design, write, test, tune, document, deploy, maintain, and support new features, analysis methods, and infrastructure
  • Maintain computing infrastructure and software deployments
  • Constructively participate in the design and review of code


  • Bachelor’s degree in Computer Science or related field or equivalent experience
  • 2+ years of industry software engineering experience
  • Solid understanding of computer science fundamentals
  • Facility with “tools of the trade”, e.g., Unix system administration, shell scripting, build and deployment tools, version control, etc.
  • Ability to meet deadlines and work cooperatively in a multi-disciplinary environment
  • Experience with working with cloud deployments

Please apply via Broad Institute careers site.

Academic Positions

Northeastern Coop – (CCIS) Software Engineer – MacArthur Lab.

The MacArthur Lab is leading several large scale efforts to improve the rate of diagnosis for families affected by rare genetic conditions: the Rare Genomes Project (RGP;, the Genome Aggregation Database ( and the Broad Center for Mendelian Genomics (CMG; Each of these projects receives disparate types of information about families, individuals, and samples, and this data must be carefully tracked and updated throughout the lifecycle of each initiative. Maintaining this information currently requires significant manual data entry by analysts and project managers.We’re looking for a software engineer to work closely with the team to design and implementtools that make it easier to enter, track, search and share this data.

Your job will involve working with project managers to brainstorm solutions and identify areas where software tools could improve our efficiency Also, you will collaborate with the lab’s software engineering team to implement solutions and potentially integrate them with the lab’sinternal and publicly facing web portals.

The ideal candidate will have excellent communication skills, and experience working with users to design and build user-friendly software. Previous coursework or experience in biomedical subject areas is preferred but not required. For candidates considering research careers, this is an opportunity to contribute to and gain experience with the inner workings of a research lab at the cutting edge of genomics research.

To apply, email Daniel with your CV.

Northeastern Coop – Analyst for curation of genetic variants – MacArthur Lab.

The MacArthur Lab ( is leading several large-scale efforts to improve understanding of how rare genetic variants contribution to human disease. These projects involve analysis of genetic sequence data from thousands of people deposited in the Genome Aggregation Database (, as well as exome and genome sequencing of thousands of families affected by undiagnosed rare diseases. Our understanding of the impact of specific genetic variants remains a critical challenge in clinical practice. We are investigating whether the rare pathogenic variants found in some individuals cause the expected presentation of a disease, for example whether people who have rare variants that are thought to cause obesity are actually obese. These analyses involve curation of hundreds of genetic variants from various databases of suspected disease-causing variations, including ClinVar (

We’re looking for an analyst to work closely with the team to curate suspected disease-causing variants. This will involve cataloguing evidence from various sources, including online databases and literature review in PubMed ( Your job will involve working with clinical geneticists and genetic counselors to assess the impact of genetic variants together.

The ideal candidate will have excellent communication skills, attention to detail, and have completed coursework in biology, ideally in genetics. For candidates considering research careers, this is an opportunity to contribute to and gain experience with the inner workings of a research lab at the cutting edge of genomics research.


  • Excellent communication skills
  • Attention to detail
  • Creativity in problem-solving
  • Completion of coursework in biology, ideally genetics
  • Experience utilizing PubMed (ideal, but not required)


  • Hands on learning about human genetic variation
  • Opportunity to be part of cutting-edge research
  • Work with physicians and genetics researchers
  • Gain experience utilizing state of the art tools used in the clinical genetics

To apply, email Daniel with your CV.

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.