In the Diagnostic Molecular Genetics Laboratory at Memorial Sloan Kettering Cancer Center we perform DNA sequencing to evaluate and diagnose inherited cancer susceptibilities.
At this time, we are seeking a Genetic Analysis Specialist to join our team. In this position you will be responsible for identifying and classifying variants/mutations detected through molecular genetic testing performed on our Next-Generation Sequencing (NGS), Sanger Sequencing and MLPA platforms. You will work closely with Molecular Pathologists, Geneticists, Bioinformaticians and our Clinical Laboratory Team to interpret sequence variants and to help draft clinical reports for patients who are undergoing testing.
As a Genetic Analysis Specialist, you will:
Review clinical sequencing data output and assist in identifying sequencing artifacts.
Utilize public databases and in-silico tools to determine the impact of the variant on protein function.
Review scientific literature to identify and curate the functional outcomes of variants at the population level.
Assist in classifying variants to different pathogenicity levels based on prior information and ACMG Guidelines.
Assist in drafting accurate and meaningful clinical reports for our patients.
Collaborate with our Clinical Bioinformatics team to incorporate improved algorithms and databases into existing clinical analyses pipelines.
Provide valuable scientific insight to the Laboratory Director and Clinical Development Team towards the validation of new assays.
Work with our MSK Clinical Genetics Service as a knowledgeable resource for variant classification between our services.
Maintain detailed clinical records of all analyses and curation work.
Track specimen information, experimental parameters and clinical pipeline results.
Collaborate on special projects as well as new and ongoing clinical research studies designed by the Lab Director and clinical team.
Strong analytical and excellent written and verbal communication skills.
Minimum 1-3 years of prior experience classifying human germline genetic variants from Next-Generation sequencing (NGS), Sanger sequencing and MLPA (Deletion/Duplication) data.
Masters Degree (Genetic Counseling, Molecular Biology, Genetics) or PhD (Human Genetics/Genetics, Cancer Biology/Molecular Biology).
Familiarity with electronic germline genetic databases related to Sanger Sequencing and Next-generation sequencing.
Clinical experience in cancer genetics and a strong background in Human Genetics preferred.
Monday - Friday, 9:00am - 5:00pm
Internal Number: 2019-33597
About Memorial Sloan-Kettering Cancer Center
As one of the world's premier cancer centers, Memorial Sloan-Kettering Cancer Center is committed to exceptional patient care, leading-edge research, and superb educational programs. The close collaboration between our physicians and scientists is one of our unique strengths, enabling us to provide patients with the best care available today as we work to discover more effective strategies to prevent, control, and ultimately cure cancer in the future. Our education programs train future physicians and scientists, and the knowledge and experience they gain at Memorial Sloan-Kettering has an impact on cancer treatment and the biomedical research agenda around the world.