Clinical Genomics Bioinformatics Scientist – NGS Pipelines

GAP Solutions, Inc.; Bethesda (MD); On-site; USD 90,000 - 130,000; Full time

Job summary

The Bioinformatics Scientist will provide support services to the National Cancer Institute within the National Institutes of Health. This role focuses on optimizing sequencing data, developing analysis pipelines, and integrating complex genomic information for clinical sequencing projects.

Responsibilities include deploying and maintaining the cBIO Portal, processing data on NIH Biowulf clusters, and producing reports and manuscripts.

Responsibilities

• Use existing infrastructure and optimize Exome/Targeted/RNA Sequencing Data.
• Analysis pipelines for clinical sequencing projects.
• Develop pipelines to integrate complex genomic data including germ line, somatic DNA mutations, RNAseq and SNP assays.
• Work with staff on the production of a data compendium enumerating the frequency of variations from tumor/normal samples.
• Install and maintain local version of cBIO Portal.
• Upload Labs Data on cBIO Portal for easy visualization.
• Work with staff to utilize NIH Biowulf computer clusters to process data streamed off the next generation sequencers (NGS); process data in a batch mode.
• Collect and review data; analyze and interpret data and results; provide reports based on analysis of scientific data.
• Report research outcomes and make recommendations for future work.
• Work with staff on data visualization to support the preparation of presentations and manuscripts for submission to scientific journals.
• Bioinformatics Lab meetings, scheduling and notes writing.
• Co-write manuscripts.
• Develop annotation algorithms and databases with all publically available data including Annovar, 1000genomes, ExAC, MyCancerGenome, ClinSeq, ESP, ClinVar, HGMD and other databases as released.
• Develop new algorithms for analysis of next generation sequencing and other genomics data.
• Support implementation of publically available tools in local server environment.
• Write manuals to implement tools for other users.
• Teach staff to use NGS and other genomic analysis tools.
• Provide advice to staff about data analysis pipelines.
• Work products and documents related to using existing infrastructure and optimizing pipelines for clinical sequencing projects; develop pipelines to integrate data; work with staff on the production of a data compendium enumerating the frequency of variations from tumor/normal samples.
• Work products and documents related to installing and maintaining local version of cBIO Portal; upload data on cBIO Portal; process data streamed off the NGS; process data in a batch mode.
• Work products and documents related to performing biological sequence analysis/ assembly; collect, review, analyze and interpret data; prepare reports; manage Bioinformatics Lab meetings; co-write manuscripts.
• Work products and documents related to developing annotation algorithms and databases; develop new algorithms for analysis of next generation sequencing and other genomics data.
• Work products and documents related to implementing tools in local server environment; write manuals; teach staff

Job description

The Bioinformatics Scientist will provide support services to the National Cancer Institute within the National Institutes of Health. This role focuses on optimizing sequencing data, developing analysis pipelines, and integrating complex genomic information for clinical sequencing projects.

Responsibilities include deploying and maintaining the cBIO Portal, processing data on NIH Biowulf clusters, and producing reports and manuscripts.