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Job Details
Requisition Number: 0005989  
Field(s) of Specialization:  
Position Title: Senior Research Scientist  
Department: 7538- PAT Pathology  
Department Number: 7538  
Location: Medical Center  
Summary Description: The Department of Pathology and Cell Biology at Columbia University College of Physicians and Surgeons invites applicants for a Senior Research Scientist/Scholar position. The Clinical Variant Curator (CVC) is a position designed to provide first-pass assement and annotation of constitutional exomes and disease-specific panels in the Laboratory of Personalized Genomic Medicine. In collaboration with the clinical faculty, the team will accurately identify and precisely classify variants/mutations detected through Next Generation Sequencing. The curator will serve as the "first set of eyes" on results and, in collaboration with the clinical faculty, will develop the diagnostic reports which will be entered into the patient's medical record. 
In addition to our existing mutation detection platforms/pipelines, next-generation sequencing assays for constitutional targets will generate a large amount of variants which require curation, interpretation and classification. Using information from existing databases, and more importantly, from literature, the CVC will help identify and assess genetic variant(s) in an individual as pathogenic or not. This information is crucial to the faculty interpreting the sequencing data and will be used in determining which variants are included into the patient's official diagnostic report. 

Duties include: 
? Acting as the "first set of eyes" on files from patients submitted for Next Generation Sequencing assays for the diagnosis of constitutional disorders (i.e., Whole Exomes and disease-specific panels). 
? Working through the list of variants in the output file and classifying them appropriately as disease causing, of unknown significance or irrelevant based on existing databases, the medical literature and current guidelines. 
? Presenting the initial findings to the faculty in order to reach agreement on which variants will be included into the patients final medical report 
? Preparing materials for presentation at interdisciplinary conferences where results are discussed with clinical team 
? Drafting the preliminary diagnostic report for review and sign-out by the faculty 
? Participating in academic and scholarly projects with faculty direction and mentorship 
? Assay development and validation as needed 
? Review, analysis and interpretation of data from other clinical assays including but not limited to: microarrays, sanger sequencing and genotyping assays.  
School/Institute/Unit: Physicians and Surgeons, College of  
Minimum Degree Required: Ph.D or equivalent  
Minimum Qualifications:

All applicants MUST meet these minimum qualifications to be considered for the position.
A PhD in the biological and or biomedical sciences is required as is laboratory and/or clinical experience, preferably in genetics. Applicants to this position should have an in-depth understanding of the biology, molecular mechanisms and functional studies of genetic disease. The ability to critically read, understand, and interpret data from scientific publications on a daily basis is required. This position requires cross-disciplinary and strong analytical skills as well as broad experience using computational methods, databases, software and hardware. Strong communication skills and the ability to work in a team environment are essential.  
Preferred Qualifications: Familiarity with Germline databases, Sanger Sequencing and Next-generation sequencing (NGS) experience preferred.  
Additional Information:  
Posting Date: 08-21-2015  
Closing Date: 09-20-2015
Special Instructions to Applicants:  
Proposed Start Date:  
EEO Statement Columbia University is an Equal Opportunity/Affirmative Action employer --Race/Gender/Disability/Veteran.  
Date Review Begins  
Required Applicant Documents for Upload: Curriculum Vitae  
Optional Applicant Documents for Upload  
Quicklink for Posting: academicjobs.columbia.edu/applicants/Central?quickFind=61375  

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