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 (gnomad.broadinstitute.org), 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
- 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.
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 (gnomad.broadinstitute.org).
- 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.
Currently, we have no funded postdoc positions available – details will be updated here as new roles become available.
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.