Human Genetics Assistant Director Clinical Laboratory Bioinformatics, Genetics & Genomics
Cincinnati Children's Hospital Medical Center
Location: Cincinnati, Ohio
Academic / Research
Internal Number: 127235
Assistant-Director, Clinical Laboratory Bioinformatics, Genetics and Genomics Diagnostic Laboratory or Assistant-Associate Professor, Division of Human Genetics, Cincinnati Children's Hospital Medical Center
Purpose of the position to provide the Bioinformatic/Informatic framework for safe and effective clinical testing of patient samples in the Genetics and Genomics Diagnostic Laboratory. To participate in the training and education of staff, fellows, and other trainees. To participate in scholarly activities such as research projects publications and conference presentations. To participate in the service/administrative activities of the Department/Division and the larger clinical genetics and genomics laboratory community.
Provides strategic and scientific direction for the assessment and implementation of bioinformatic tools for complex data management and analysis tasks (e.g., sequence alignment, variant calling, inter-sample comparison, patient matching/linkage). Incorporates institutional resources and 3rd party software into scalable analysis workflows. Maintains expertise in public and proprietary bioinformatics tools, contributing knowledge in existing -omic analytic technologies and newly developing technologies. Ensures data are securely stored yet universally accessible to authorized users. Effectively communicates the status of all efforts to necessary parties. Implements project and time management tools to ensure completion of projects within specific timeframes.
Serves as expert in genomic data curation, processing, and management across multiple projects for various types of biomedical data (e.g., genomic, clinical, sequencing) in various formats (e.g., flat files, relational and non-relational databases). Develops metadata curation strategies and oversees integration of diverse data types across multiple projects, consistent with national and international data standardization initiatives. Develops project and institutional strategies for secure data storage, with expert-level knowledge in data characterization, annotation, and quality assessment. Contributes to the development of institutional data analysis standards and operating procedures based on scientific literature and best practices.
Training and Education
Teaches and provides training for laboratory staff, residents and fellows, directors, and other faculty so that reporting of patient results is accurate and of high quality. Contributions may include role model and mentor; role in a major bioinformatics program; participation in local and regional educational opportunities; participation in the development of guidelines or other educational material; participation in a standards committee. May serve as consult to other faculty and community physicians. May prepare, organize, and provide lectures for fellows or other trainees. Participates in all appropriate divisional/departmental educational activities. Maintains currency in field through continuing education, literature, and seminars.
Service and/or Administration
Participates in the development or implementation of bioinformatic solutions that support the Division and Institution. Contributes to continuous improvement of software tools to support divisional and institutional initiatives. Participates in divisional, departmental, or institutional clinical bioinformatic-related committees. Promotes interpersonal and intrapersonal relationships and encourages team concepts. Develops short- and long-term goals and objectives aligned with the Laboratory and Divisional mission. Completes evaluations for direct reports, trainees, and peers. Participates in internal and external clinical laboratory inspections.
Participates in scholarly activities as evidenced by generation of scientific manuscripts, presentation at scientific meetings, publication of reviews, book chapters and books and manuscript review. Works closely with biostatistics department on the production of publication and presentation materials. Assists in obtaining funding from outside sources for research and teaching programs.
Ph.D.: Doctor of Philosophy in Bioinformatics, statistics, or a related field
Assistant Professor or Associate Professor appointment or eligibility
3 - 5 years of work experience in a related job discipline and/or at least 3 - 5 years' experience in developing and implementing bioinformatics algorithms and pipelines for processing genomic data (e.g., DNA sequencing, microarray, methylation, real-time PCR, digital PCR, capillary electrophoresis, etc.) in a clinical laboratory environment.
Board certification optional
Knowledge / Technical experience
Experience in managing data in a clinical genetics and genomics laboratory
Experience with analysis of bulk RNAseq analysis and single cell RNAseq data
Experience in managing and analyzing large -omic data sets
Proficient in R, Bioconductor, Python, or relevant alternatives
Experience in experimental assay design involving human and animal studies
Experience in scientific writing for publication
Ability to work collaboratively across disciplines
About Cincinnati Children's Hospital Medical Center
At Cincinnati Children’s, we come to work with one goal: to make children’s health better. We believe in a team approach, both in caring for patients and their families, and in advancing science and discovery. We strive to do better, and find energy and inspiration in our shared purpose. If you want to be the best you can be, you can do it at Cincinnati Children’s.