Job:Bioinformatics Specialist In The Macarthur Lab At The Boston'S Massachusetts General Hospital
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11.5 years ago


The MacArthur lab is looking for a talented, self-motivated and computationally savvy individual for a postdoc or bioinformatics specialist position in my new group in Boston's Massachusetts General Hospital. The successful applicant will be part of a translational genomics team using data from seriously large-scale genome sequencing, RNA sequencing and genotyping experiments to transform our understanding of human biology. They will also play a role in developing systems for integrating genomic information into the practice of medicine.

More information at

About the position

The MacArthur lab is a new research team based within the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital and closely affiliated with the Broad Institute of Harvard and MIT. The successful candidate will become a part of the Broad Institute community, interacting extensively with other members of the Program in Medical and Population Genetics. You will work with population geneticists, clinicians, statisticians, computational biologists, industry partners and others in a unique and collaborative intellectual environment, and have access to new informatic and experimental technologies being developed in the world’s leading center for human genomics.

We are looking for an ambitious, intellectually curious individual who is comfortable with integrating large, complex data-sets, and excited about the future of genomic medicine. Applicants do not necessarily have a formal background in academic research - a PhD is not required - but should be prepared to apply rigorous computational approaches to complex biological problems, and enthusiastic about communicating their work to both scientific and lay audiences.

Principal duties and responsibilities

This role will focus on exploring the impact of natural loss-of-function (LoF) mutations in human protein-coding genes. Our group has recently published an article in the journal Science on the systematic identification of LoF variants from next-generation sequencing data. You will work with ATGU members and other collaborators in developing an informatic pipeline for the identification and filtering of LoF variants from genome and exome sequencing data. This position will involve using data from large-scale RNA sequencing experiments and databases of known disease mutations to refine probabilistic models of the functional impact of genetic variants. You will coordinate the application of the completed analysis pipeline to exome sequencing data from over 20,000 individuals.

Ultimately, we aim to perform large-scale genotyping of LoF variants to identify the effects of these genetic changes on human traits and disease risk - an approach we have dubbed the Human Knockout Project. You will have a chance to be involved in the design and execution of this ambitious project, which we anticipate will uncover the function of many currently uncharacterized human genes. You will also contribute to the development of an integrated pipeline for the annotation of clinical sequencing data currently being generated by the ATGU and collaborators, and to the application of this pipeline to sequencing data from hundreds of Mendelian disease patients to discover novel disease-causing mutations.

The candidate will be expected to contribute to the writing of high-impact scientific publications and funding applications, to travel to and present their work at international conferences, and to actively seek collaborations with other researchers around the world. This position may also involve some supervision of graduate students and research technicians.

Skills required

  • A good working knowledge of biology and human genomics;
  • Direct experience with large-scale data from genotyping and next-generation sequencing technologies, including familiarity with analysis tools such as SAMtools and GATK;
  • Ability to work in a unix environment, with demonstrable experience in high-level programming using C/C++ and experience with scripting languages such as Perl or Python;
  • Demonstrated ability to work independently and to manage multiple research projects;
  • Excellent communication skills, including both oral presentation and writing ability;
  • Ability to work as part of a team in collaborative programming projects;

Desirable skills

  • experience with statistical analysis in R;
  • experience with HTML and website development;
  • experience using relational databases, preferably using SQL;
  • experience using bioinformatics tools such as Bioconductor, bowtie, and pathway analysis tools (e.g. DAVID, IPA).

Education required

No minimum education level is required, but a graduate degree in bioinformatics or related discipline, or equivalent years of experience in the field, is preferred.

Experience required

At least two years of experience working in bioinformatics or a closely related discipline.

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