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    Opportunity: Bioinformatics Specialist (Pathology Department) (#3825) @ Memorial Sloan Kettering -- New York, NY (US)
    Submitted by Gina Schaefer; posted on Friday, January 31, 2014


    Memorial Sloan Kettering Cancer Center is a world renowned organization dedicated to the progressive control and cure of cancer through programs of patient care, research, and education.

    The Bioinformatics Specialist assists the clinical and research operations of the Pathology-based Bioinformatics group to accurately identify mutations from clinical next-generation sequencing data. The Molecular Diagnostics Laboratory within the Department of Pathology is applying next-generation sequencing techniques to characterize the spectrum of genetic mutations in patient tumors. These genomic data are guiding treatment decisions and the enrollment of patients onto clinical trials of novel targeted therapies.


    As a Bioinformatics Specialist you will use specially designed software tools and perform manual cross-checking to ensure that sequencing variations are accurate and real. Duties include collaborating with cross-disciplinary teams, working with different types of computer software and databases for data analysis, and assisting the development and validation of new assays and analytical platforms.
    Additional Responsibilities include:
    • 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 with a multidisciplinary group to integrate Next Generation Sequencing data into clinical and research results.
    • 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.
    • Trains clinical laboratorians and research staff in the use of computational analysis tools so that the expertise is directly available in their respective groups.
    • Works with the Bioinformatics team to properly maintain and assist in data and software currency.


    MS in Bioinformatics or related with 0-2 years of related experience preferred. Bachelor's Degree with 2-4 years of Next-generation sequencing and cancer genetics experience will be considered. This position requires cross-disciplinary and strong analytical skills as well as broad experience using computational methods, databases, software and hardware.


    New York City, NY


    We offer competitive salaries and comprehensive benefits, including tuition reimbursement.


    Please visit our website at and apply on-line using job code 3825 or click on the following link:[...]23000


    MSKCC is an equal opportunity and affirmative action employer committed to diversity and inclusion in all aspects of recruiting and employment. All qualified individuals are encouraged to apply and will receive consideration without regard to race, color, gender, gender identity or expression, sexual orientation, national origin, age, religion, creed, disability, veteran status or any other factor which cannot lawfully be used as a basis for an employment decision.

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