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Molecular Diagnostics - Development and NGS Data Scientist

SUNY Upstate Medical University
Job Location
750 East Adams St
Syracuse, NY 13210
United States
Commensurate with qualifications
Job Description

Job# 60343

The Diagnostics Development and NGS Data Scientist is responsible for assisting the Molecular Diagnostics Laboratory in developing and validating new clinical tests, and investigating the significance of somatic and germline variants identified in next generation sequencing-based clinical panels.  Expertise in wet bench molecular methods, which may include tissue DNA/RNA extraction, PCR, capillary electrophoresis, RT-PCR, melting curve assays, NGS libraries, as well as variant analysis of SNVs, CNVs and structural variants found in NGS-based clinical tests are core responsibilities. 

For test validations, the Scientist will author summary reports of the studies for the Director's review and approval.  For variant analysis, the Scientist will critically assess research literature and perform database searches, using gnomAD, ClinVar and COSMIC, into the clinical significance of variants for classification and curation.  Other responsibilities include assisting with training of laboratory medical technicians in new methods to implement clinical testing and workflows.  The Scientist will assist in maintaining NYSDOH and DNV Standards and working with the Director to keep the laboratory in compliance with regulations as they relate to test validation.  The Scientist will be working closely with medical technologists, pathologists, clinical geneticists and support staff. 


Masters Degree in Research or related field and 3 years of post-graduate molecular laboratory bench experience required. Experience with molecular techniques and bioinformatics required. Experience with cancer and human genetics strongly preferred. Experience in next generation sequencing,  bioinformatic tools and variant databases. PhD in mammalian biology or biomedical sciences. Clinical laboratory experience.  Working knowledge of variant ACMG/AMP standards and guideline.  Experience with liquid handling automation. 

About Our Organization

About UpstateSUNY Upstate Medical University is the only academic medical center in Central New York. It is also the region's largest employer with 9,460 employees.

Affiliated with the State University of New York, Upstate's mission is to improve the health of the community through education, biomedical research and health care.

Upstate Medical University's educational mission is anchored by its four colleges—Medicine, Nursing, Health Professions and Graduate Studies (biomedical sciences). Since 2006, student enrollment has grown by 30% as Upstate responds to the needs of the region.

As a biomedical research enterprise, Upstate focuses on the most prevalent human diseases, including cancer, diabetes, heart disease, nervous system disorders, vision, and infectious diseases. The quest for treatments and cures is built upon expertise in structural, molecular and systems biology. Upstate also offers many clinical trials for patients.

The Upstate University Health System serves 1.8 million people, often the most seriously ill and injured, and includes Upstate University Hospital; Upstate University Hospital at Community Campus; Upstate Golisano Children's Hospital, and numerous satellite sites.

Syracuse has the conveniences of a big city and the comforts of a small town, offering an outstanding quality of life—all in a beautiful and affordable part of the state. In addition to "University Hill", which provides a college town atmosphere—and Division I basketball, football and lacrosse—Syracuse offers a rich cultural life including a variety of outdoor festivals, professional theater, several museums, and the historic Armory Square district with many fine restaurants and unique shops.

With four distinct seasons, affordable housing, and easy commutes, Syracuse consistently ranks high on national quality-of-life and cost-of-living polls. Popular outdoor activities include hiking, cycling, golfing, swimming, boating and fishing. Winter sports enthusiasts enjoy skating, snowmobiling and downhill and cross country skiing. Many lakes, parks, and golf courses are within a few minutes drive. Within an hour's drive are Lake Ontario, the Finger Lakes region (producing world famous wines), the Thousand Islands, and Adirondack Mountain vacation areas.

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