DEPARTMENT: Cincinnati Children's Research Foundation, CCHMC Affiliates
SUPERVISOR'S TITLE: Principal Investigator
TITLES SUPERVISED: NA
TOTAL NUMBER OF FTE's DIRECTLY OR INDIRECTLY SUPERVISED: 0
PURPOSE OF POSITION: To conduct variant interpretations in molecular diagnostic tests and to conduct molecular test developments in a clinical laboratory.
The Laboratory of Genetics and Genomics in the Division of Human Genetics, provides molecular genetics and cytogenetics diagnostic services for internal patients as well as patients worldwide. We are looking for a highly motivated individual with a PhD degree in molecular genetics, molecular biology, or related field, who is passionate in applying knowledge in life science into clinical data analysis and interpretation. The candidate would join a team of genomic scientists and analysts-bioinformatics who perform next generation sequencing data processing and analysis on clinical samples.
MAJOR DUTIES AND RESPONSIBILITIES: •Genetic data analysis - conducting variant interpretation for clinical genome sequencing, exome sequencing, NGS panel and single gene tests. Understand medical terminologies and the functionalities of major human genetics information databases, such as OMIM, HGMD, ESP, ClinVar, and ExAC. Review patient's clinical history, family pedigree, and physician notes. Establish genotype–phenotype correlations, and conduct pathogenicity assessment of variants by complete evaluation of gene and variant information.
•Teamwork - effectively communicating with physicians, genomic scientists, genetic counselors, lab technologists, bioinformatics specialists, and directors. Provide specific expert opinions on variants and genes, and clinical findings. Work collaboratively with various teams within the laboratory.
•Professional communications - engaging in clinical and scientific discussions and presentations within the institute or at scientific conferences. Attend clinical meetings on exome case discussion, and present clinical findings in the molecular genetics laboratory meetings. Attend and present scientific findings at scientific conferences.
•Analysis process improvement - contributing to analysis pipeline and procedure optimization, and in-house database update and improvement. Provide professional opinions and feedbacks on existing pipelines, databases, as well as commercial pipelines/tools, thus to make differences in improving the efficiencies and qualities of the services.
•Development - contributing to the development of clinical tests, and to the establishment of standard operating protocols, policies, and other documentations. Keep track of the field of molecular diagnosis, and identify the areas of new test development. Participate in generating candidate gene lists, establishment of test procedure, and test validation.
EDUCATION\WORK EXPERIENCE: Required: •Ph.D., M.D or equivalent degree in genetics, molecular genetics, molecular biology, or relevant disciplines. • At least 3 years of related postdoctoral experience in relevant fields, such as NGS data analysis, genetic and molecular characterization of gene functions.
Applicants with extensive experience in human gene to phenotype association analysis, variant interpretation, as well as with excellent oral and written communication skills, strong work ethic and ability to work in a collaborative team environment, are encouraged to apply. Postdoctoral research experiences in genetics, molecular biology, cell biology, or cancer biology are also desirable.
REQUIRED SKILLS: Excellent written, verbal and interpersonal communication skills. Demonstrate attention to detail, strong organizational skills, supervisory ability and an innovative approach to experimental design. Computer literate and working knowledge of software applications (word processing, presentation, spreadsheet and database software). Analytical ability sufficient to compare data; mathematical ability sufficient to perform algebraic calculations and statistical analyses. Ability to synthesize information and to create and deal with new situations by applying past experiences. Expressed willingness to teach others and share results. Capable of meeting time demands necessary to execute experiments. Ability to express results in the form of oral and written presentations suitable for submission to the peer-reviewed literature. Careful bookkeeping skills.
Cincinnati Children’s is an Equal Opportunity Employer. Qualified applicants receive consideration for employment without regard to race, color, religion, sex, national origin, age, genetic information,
physical or mental disability, military or veteran status, sexual orientation, gender identity/expression, or other protected status in accordance with applicable federal, state, and local laws and regulations.
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