Clinical Genome Resource (ClinGen) Software Engineer

Description

OVERALL RESPONSIBILITY

The Clinical Genome Resource (ClinGen) is a research program funded by the National Human Genome Research Institute that is building a central resource to define the clinical relevance of genes and variants for use in precision medicine and research (https://www.clinicalgenome.org/). This software engineer position will play a vital role in providing messaging and integration services within the ClinGen software ecosystem, as well as supporting the back-end software development of a web-based applications that will enable the sharing of data between organizations, within the research program of Dr. Heidi Rehm at Broad Institute.

While this position is primarily focused on back-end software and technical development it will also provide the individual with opportunities to build an understanding of relevant clinical genetics domain knowledge by working closely with our variant sciences team, which supports variant classification and gene-disease validity assessment as well as clinical genetic test reporting.

PRINCIPAL DUTIES AND RESPONSIBILITIES

Support back-end software development of a web-based interface for display of information on clinically relevant genomic variation

Develop and evolve the ClinGen Data Model document automation system.

Participate in the development of a data sharing pipeline infrastructure and integration services for the ClinGen ecosystem.

Facilitate aggregation of data from locus-specific databases and deposition into ClinVar

Generate oral and written updates on progress

Attend team meetings and present results of ongoing work

Support other projects related to the curation of genomic knowledge

In addition, the Software Developer should possess excellent organizational skills and the ability to interact effectively through close collaboration with a geographically distributed team in the ClinGen consortium.  The successful candidate should be able to balance and manage multiple tasks and projects independently.

QUALIFICATIONS

BS degree with technical, science or engineering focus

Requirements

• Minimum 2 years of software development experience

• Demonstrated ability to develop MVC-based web applications

• Demonstrated understanding of functional programming techniques; understanding of functional language

• Demonstrated experience with messaging architectures and web services

• Interest in working with a wide variety of technologies and on diverse problems

Preferred Qualifications

• Experience with any of the following programming languages: Clojure, Ruby, PHP, Java, Javascript, Python.

• Experience with graph modelling and related technologies (Neo4j or similar).

• Experience with design and use of streaming architectures (Apache Kafka, RabbitMQ, Spark)

• Familiarity with building, applying or using ontologies, in particular bio-ontologies

• Knowledge of molecular biology/genetics

• Strong communication skills and ability to work with users to develop and document requirements

• Strong organizational and time-management skills

EOE / Minorities / Females / Protected Veterans / Disabilities