Clinical Variant Curator

Organization
Mount Sinai Genetic Testing Lab, Icahn School of Medicine, Genetics & Genomic Sciences
Job Location
Manhattan
New York, NY
Benefits

The Mount Sinai Health System is committed to the tenets of diversity and workforce that are strengthened by the inclusion of and respect for our differences. We offer our employees a highly competitive compensation and benefits package, a 403(b) retirement plan, and much more.

Job Description
  1. Next-generation sequencing applications generate a large amount of variants which require significant effort towards interpretation and classification. The Clinical Variant Curator will play a key role in the clinical operations of the laboratory to accurately identify and classify variants detected through standard clinical genetic testing. 

  2. The selected candidate will be responsible for investigating the clinical significance of gene variants found in sequencing-based assays; as determined by searching online mutation databases as well as published literature or other academic resources. They will prepare variant assessment summaries, maintain an internal variant database for different disease/assay areas for the curation of variants periodically.  Using information from existing case evidence, the specialist will help determine whether the genetic variant(s) identified in an individual is a pathogenic variant or not. Such clinical interpretation is a critical component for the reporting of molecular genetic testing results.  They will also assist Directors in preparing reports and perform additional tasks when necessary.

  3. Assist the Laboratory Director in design of clinical testing pipelines in conjunction with the Laboratory Manager/Supervisor, Technologists.

  4. Interpret and classify genetic variants identified through clinical testing as well as interfacing with Clinical Genetics Services (CGS) for pre- and post-sign out issues, including variant assessment and curation.

  5. Additional translational clinical developmental activities will be required.

Requirements

1.  Education:  Masters/PhD in Life Science such as Molecular Biology/Genetics or Genetic Counseling required.

2.  Minimum two years of human genetics training.  Experience with sequencing data preferred.

3.  A strong background in Human Genetics and an in-depth understanding of biology, molecular mechanisms and functional studies is essential.

4. Must possess strong ability to critically read, understand and interpret data from scientific publications. Cross-disciplinary and strong analytical skills as well as experience with databases, software and bioinformatic tools preferred.

5. Familiarity with clinically relevant and population databases (such as ClinVar, HGMD, ExAc etc), Sanger sequencing and Next Generation Sequencing (NGS) experience is preferred. 

How to Apply

Email CV and Cover Letter to:

MountSinaiGeneticTestingJobs@gmail.com

 

About Our Organization

Mount Sinai Health System’s vision is to grow and challenge convention through pioneering spirit, scientific advancements, forward-thinking leadership, a collaborative approach to providing exceptional patient care with seamless coordination to advance medicine through unrivaled education, research, and outreach in the many communities we serve.  All those who wear the Mount Sinai badge were selected because of an evident commitment to these goals and values.

1.The Mount Sinai Genetic Testing Laboratory, housed in the Department of Genetics and Genomic Sciences, working closely with clinical geneticists who see patients for rare diseases, as well as the bioinformatics team at the Icahn Institute for Genomics and Multiscale Biology, has created a new line of tests that help inform couples of their risks of having a child with a genetic disorder.

 

2. Years of population-based research and technology adaptation in our clinical laboratory have created the most comprehensive tests that not only expand the number of diseases screened, but also the breadth of coverage to improve carrier detection rates and provide more accurate residual risk estimates to patients. Our cutting edge approach enables us to report on extensive genomic information in a clinical setting with rapid turnaround time.

 

3. The individuals who work in the Mount Sinai Genetic Testing Lab have the opportunity to work to enhance and develop genetic testing panels, ensure premium service to clients and aid in the expansion of our products to new communities.  The structure of the lab allows for hands-on contributions and a commitment to growth by bringing in people who share an entrepreneurial spirit, thrive in an atmosphere of individual and collaborative creativity and most importantly, a desire to be constantly engaged to achieve results.

 

At Nature, Johns Hopkins' Gundula Bosch describes her graduate program that aims to get doctoral students thinking about the big picture.

Patricia Fara writes about childcare funding, and women in science and science history at NPR.

National Institute of Environmental Health Sciences researchers have visualized the career paths of former postdocs.

A new survey from the Pew Research Center finds that half of women working in STEM have experienced gender discrimination at work.