Collaborates in the development of software tools for supporting variant and gene curation.
Participates in resolving variant interpretation differences between ClinVar submitters.
Aids Clinical Domain WGs in supporting gene and variant curation programs.
Supports the writing of ClinGen research publications.
Interprets data analysis of high throughput genomics, proteomics and genetic data.
Plans own resources to implement or modify existing web-based bioinformatics tools.
Performs other related work as needed.
PhD in genetics, molecular biology, biochemistry, computer science, or data science.
Well versed in genetics and genomic medicine and experience in basic programming for bioinformatics with scripting languages such as Perl, Python, R, Java, XML, C/C++ or SQL.
Working knowledge with next generation sequencing technologies, such as BWA, Novoalign, STAR, GATK, samtools, Picard.
Background with algorithmic techniques, data structures, and scientific programming.
Prior post-doctoral research experience and a strong publication record.
Basic application of computational tools and information technology to gather, analyze and visualize data in biology and biomedical research.
Implement or modify existing web-based bioinformatics tools.
Transfer abstract workflows into production level software.
Data analysis of high throughput genomics and genetic data.
Customize existing applications to meet specific scientific project needs.
Assist in creating data algorithms and specialized computer software to identify and classify components of a biological system (i.e., DNA sequences)
Support the development of data models, databases, or software applications.
Produce, present, and discuss high quality data analysis reports.
Excellent organizational skills.
Interact effectively with the local team at the University of Chicago and an international network of laboratories, disease experts, and data sources.
Balance and manage multiple tasks and projects independently.
Learning and implementing the ClinGen variant curation framework. Â
Track the curation progress and provide feedback on curation toolsets; translate and integrate genetic information from primary literature and data from online genetic databases into biocuration databases to support genomic medicine research.
Work independently while maintaining strong communication with the Godley Laboratory group as well as external collaborators.
Knowledge of online genetic databases such as OMIM, ClinVar and LOVD.
Management of small development groups and the interpersonal skills to supervise others.
Effective verbal and written communication.
Outstanding analytical and problem-solving skills, attention to detail, and hold high professional standards for their own work and that of others.
Cover Letter (required)
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Internal Number: JR11069
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