Bioinformatician I/II/III - Robinson lab

The Jackson Laboratory for Genomic Medicine

Farmington, CT

Job posting number: #7085376

Posted: September 15, 2021

Application Deadline: October 29, 2021

Job Description

Farmington, Connecticut
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Summary

The Robinson lab is seeking a Bioinformaticician to join our team that focuses on the development of software and ontologies for biomedical research. Our team of expert biological curators, bioinformaticians, and computer scientists maintain and enhance a knowledge extraction and refinement process that delivers an essential set of biomedical data and its provenance for biomedical applications. Our lab leads the development of the Human Phenotype Ontology (HPO) project; the HPO is used across the globe for computational analysis of phenotype data (i.e., clinical abnormalities) to support differential diagnostics and research. This position will work on projects involving leveraging the HPO to develop algorithms to support genomic diagnostics (exome, genome sequencing) of individuals with suspected rare genetic disease. In collaboration with the Smedley lab at Queen Mary’s University of London, we have developed the Exomiser. The Bioinformatician will develop novel algorithms to extend this framework to new medical areas and data sources.

The Exomiser framework and the software libraries used for it have been developed in Java. We are therefore looking for a developer with experience in Java. Bioinformatician will be tasked with the development, implementation, and testing of novel algorithms for genomic analysis. This position will be expected to play a leading role in the development of such algorithms and will have the opportunity to publish. The Robinson lab offers and stimulating and friendly environment for developing skills in genomics algorithm development. Typical examples of our work in this area include (https://pubmed.ncbi.nlm.nih.gov/27569544/ and https://www.biorxiv.org/content/10.1101/2021.01.28.428499v1.

For additional insight, this article provides an overview: The Human Phenotype Ontology in 2021. Nucleic Acids Res. 2021;49(D1):D1207-D1217. https://pubmed.ncbi.nlm.nih.gov/33264411/.

Responsibilities

Design, development, implementation, testing of algorithms and software for genomic diagnostics.
Integration with Exomiser development team.
Presentation of algorithms and results in scientific conferences and publications.
Qualifications

Bachelor's degree in computer science, bioinformatics, or a related field is required. PhD preferred.
Bioinformatician I: requires BS degree in Bioinformatics or relevant biological sciences degree + five years of professional bioinformatics work experience or MS degree in Bioinformatics or relevant biological sciences degree. Works under close supervision.
Bioinformatician II: requires MS degree in Bioinformatics or relevant biological sciences degree plus five years of professional work experience in bioinformatics or PhD degree in Bioinformatics or relevant biological sciences degree. Works with limited supervision for tasks performed.
Bioinformatician III: requires MS degree in Bioinformatics or relevant biological sciences degree plus seven years of professional work experience in bioinformatics domain or PhD degree with bioinformatics postdoctoral fellowship and or minimum of two years of professional work experience in the bioinformatics domain.
Experience with Java and or Python languages
Demonstrated ability to pick up new languages
Experience with algorithm development in areas such as machine learning, genomics, statistics
Experience in software engineering
Knowledge of genetics is a plus.
Ability to read scientific literatures in fields related to current projects.
Ability to lead projects / processes, working independently with limited supervision
About JAX:

The Jackson Laboratory (JAX) is an independent, nonprofit biomedical research institution with more than 2,400 employees. Headquartered in Bar Harbor, Maine, it has a National Cancer Institute-designated Cancer Center in Augusta, Maine, a genomic medicine institute in Farmington, Connecticut, and facilities in Ellsworth, Maine, Sacramento, California, and Shanghai, China. Its mission is to discover precise genomic solutions for disease and empower the global biomedical community in the shared quest to improve human health.

JAX employees work in a collaborative, value-driven, and team-based environment where the focus is on advancing science and improving patients’ lives. Researchers apply genetics to increase the understanding of human disease and advance treatments and cures for cancer, neurological and immune disorders, diabetes, aging, and heart disease. JAX was voted among the top 15 “Best Places to Work in Academia” in the United States in a poll conducted by The Scientist magazine!

EEO Statement:

The Jackson Laboratory provides equal employment opportunities to all employees and applicants for employment in all job classifications without regard to race, color, religion, age, mental disability, physical disability, medical condition, gender, sexual orientation, genetic information, ancestry, marital status, national origin, veteran status, and other classifications protected by applicable state and local non-discrimination laws.

The Jackson Laboratory provides equal employment opportunities to all employees and applicants for employment in all job classifications without regard to race, color, religion, age, mental disability, physical disability, medical condition, gender, sexual orientation, genetic information, ancestry, marital status, national origin, veteran status, and other classifications protected by applicable state and local non-discrimination laws.


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