Bioinformatics Spec.
Memorial Sloan Kettering Cancer Center•New York, NY
•Onsite
About The Position
Performs data analysis and interpretation for next-generation sequencing clinical and research experiments. Works with a multidisciplinary group to integrate Next Generation Sequencing data into clinical and research results. Works with the Bioinformatics team to properly maintain and assist in data and software currency.
Requirements
- Manually reviews output of clinical sequencing pipeline.
- Assists with the identification of sequencing artifacts and classification of high vs. low confidence variant calls.
- Develops and refines filtering criteria for appropriate elimination of false positive mutation calls.
- Checks variant annotation for compliance with HGVS nomenclature, and consistency with external databases such as RefSeq, UCSC Genome Browser, Ensembl, COSMIC and dbSNP.
- Works with other bioinformatics analysts and software engineers to modify analysis pipeline and apply bug fixes.
- Initiates analysis on sequencing data from routine clinical runs, monitors pipeline progression for quality control (QC) purposes, alerts bioinformatics team to samples failing QC.
- Learns about existing and newly available public tools for data analysis and works with bioinformatics team to apply promising tools to develop new analysis workflows.
- Works directly with the clinical Service Chief, Bioinformatics team, clinical Laboratory Management and Research Groups to analyze clinical and biomedical data.
- Assists with registering sequencing runs and analysis results in LIMS and associated analysis databases.
- Interfaces with molecular diagnostics attending staff to assist in manual review and sign-out of NGS assay results.
- Evaluates processes and technologies, and suggests revisions to increase productivity and efficiency.
- Assists with evaluating new versions of NGS analysis programs for integration into clinical workflows.
- Troubleshoots analysis software when appropriate.
- Trains clinical laboratorians and research staff in the use of computational analysis tools so that the expertise is directly available in their respective groups.
- Conducts one-on-one OR group training sessions and workshops in the use of clinical analysis tools.
- Assists with developing technical specifications for data management, programming and communicates those needs to the rest of the informatics staff.
- Works with the Pathology IT group as well as with the informatics team to ensure that clinical interpretation pipelines are current.
- Notifies informatics team and clinical teams of troubleshooting and software anomalies as appropriate.
- Works with necessary and relevant software.
- Requests maintenance on software for clinical and research purposes.
- Requests maintenance to ensure the integrity and flow of data from instruments to computational equipment remains optimal.
- Stays current with new software versions, patches and security.
- Maintains Hospital and Laboratory HIPAA compliance for all data.
Responsibilities
- Manually reviews output of clinical sequencing pipeline.
- Assists with the identification of sequencing artifacts and classification of high vs. low confidence variant calls.
- Develops and refines filtering criteria for appropriate elimination of false positive mutation calls.
- Checks variant annotation for compliance with HGVS nomenclature, and consistency with external databases such as RefSeq, UCSC Genome Browser, Ensembl, COSMIC and dbSNP.
- Works with other bioinformatics analysts and software engineers to modify analysis pipeline and apply bug fixes.
- Initiates analysis on sequencing data from routine clinical runs, monitors pipeline progression for quality control (QC) purposes, alerts bioinformatics team to samples failing QC.
- Learns about existing and newly available public tools for data analysis and works with bioinformatics team to apply promising tools to develop new analysis workflows.
- Works directly with the clinical Service Chief, Bioinformatics team, clinical Laboratory Management and Research Groups to analyze clinical and biomedical data.
- Assists with registering sequencing runs and analysis results in LIMS and associated analysis databases.
- Interfaces with molecular diagnostics attending staff to assist in manual review and sign-out of NGS assay results.
- Evaluates processes and technologies, and suggests revisions to increase productivity and efficiency.
- Assists with evaluating new versions of NGS analysis programs for integration into clinical workflows.
- Troubleshoots analysis software when appropriate.
- Trains clinical laboratorians and research staff in the use of computational analysis tools so that the expertise is directly available in their respective groups.
- Conducts one-on-one OR group training sessions and workshops in the use of clinical analysis tools.
- Assists with developing technical specifications for data management, programming and communicates those needs to the rest of the informatics staff.
- Works with the Pathology IT group as well as with the informatics team to ensure that clinical interpretation pipelines are current.
- Notifies informatics team and clinical teams of troubleshooting and software anomalies as appropriate.
- Works with necessary and relevant software.
- Requests maintenance on software for clinical and research purposes.
- Requests maintenance to ensure the integrity and flow of data from instruments to computational equipment remains optimal.
- Stays current with new software versions, patches and security.
- Maintains Hospital and Laboratory HIPAA compliance for all data.
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What This Job Offers
Job Type
Full-time
Career Level
Mid Level
Education Level
No Education Listed
