Researching, developing and participating in the implementation of advances in curation protocols and curation tools.
Curating genomic content on a variety of biomedical topics including cancer biology, pediatric cancer diagnostics, prognostic markers and indications for therapy.
Working collaboratively on the development, testing, and refinement of content curation protocols that impact precision medicine.
Testing and providing feedback on curation tools.
Participating in building the highest quality database possible of clinically actionable pediatric cancer genetic variants. Translating genomic data into clinically meaningful and actionable results by collaborating with a highly trained and dedicated team of scientists, clinical professionals and engineers.
Working collaboratively with consultants to build a knowledge base to enhance the understanding of genes and variants in pediatric cancers.
To qualify you must have...
Work requires a Ph.D. in Human Genetics, Molecular Genetics, Cancer Biology or closely related field; a Masters in Molecular Biology/Human Genetics or related field; or a Masters of Genetic Counseling.
Experience with genetic variant curation, reporting, and/or interpretation of clinical relevance based on professional guidelines is highly desired; experience with cancer variants is preferred.
Previous analysis experiences with NGS (next generation sequencing) data, variant annotation and QC metrics a plus.
A unique opportunity to join a start-up clinical pediatric molecular diagnostics laboratory that will provide a wide range of testing services in the area of molecular genetics/pathology, employing a variety of state-of- the-art molecular biology methods. The lab is primarily focused on the detection of somatic genetic alterations in pediatric tumors and tumor-like conditions. The primary responsibility of this person will be to curate genomic content on a variety of topics including cancer biology, pediatric cancer diagnostics, prognostic marker and indications for therapy. Under the direction of the Medical Director, this person will help develop, test and refine content and curation protocols that will be included in patient reports and laboratory databases, with a significant impact on precision medicine in pediatric cancer care. By working collaboratively with a group of clinical professionals and scientists, the successful candidate will translate genomic data into clinically meaningful and actionable results. The ability to critically analyze medical and scientific literature with outstanding attention to details during problem solving is required. A strong foundation in knowledge of genetics is needed.
Boston Children's Hospital is a 404-bed comprehensive center for pediatric health care. As one of the largest pediatric medical centers in the United States, Boston Children's offers a complete range of health care services for children from birth through 21 years of age. (Our services can begin interventions at 15 weeks gestation and in some situations we also treat adults.)
We have approximat...ely 25,000 inpatient admissions each year and our 200+ specialized clinical programs schedule 557,000 visits annually. Last year the hospital performed more than 26,500 surgical procedures and 158,700 radiological examinations.