**Primary Location** Kasota - 3244 Burnet **Department** Human Genetics **Shift** Day (United States of America) **Schedule** Full time **Weekly Hours** 40 **FTE** 1 **Employee Status** Regular We are looking for a highly motivated individual with s PhD (or equivalent) degree in molecular genetics, molecular biology, or related field, who is passionate in applying life-science knowledge to clinical data analysis and interpretation. Candidates with an MSc in Genetic Counselling are encouraged to apply. The candidate will join a team of genomic scientists (clinical variant curators), bioinformaticians, genetic counselors, and board-certified laboratory genetics directors who perform next-generation sequencing (NGS) data processing and analysis on clinical samples. The candidate would be mainly focused on conducting variant interpretations in molecular diagnostic tests and participating in molecular test development in a clinical laboratory. The Genetics and Genomics Diagnostic Laboratory (GGDL) CLIA-Experience in a Clinical Genetics laboratory/ pediatric clinical setting certified and CAP-accredited lab in the Division of Human Genetics. We combine state-of-the-art genetic testing with comprehensive interpretation of tet results by board-certified clinical specialists, PhD genomic scientists (clinical variant curators) and genetic counselors to offer a broad range of molecular and cytogenetic diagnostic services in support of patient care. We are engaged in collaborative interactions with clinicians, physician-scientists and research investigators to translate scientific discoveries into robust genetic diagnostics. We are moving exome- and genome-based testing into mainstream pediatric diagnosis by offering comprehensive next-generation sequencing technology, combined with advanced bioinformatics to provide high quality clinical results. **JOB RESPONSIBILITIES** - **Conduct Research -** *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, including OMIM, HGMD, ClinVar, and gnomAD. 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.* Design, execute and record laboratory experiments; apply standard scientific/research protocols to experiments, research and improve current methods and evaluate innovative techniques. Design and perform experiments and record data according to research protocol. Independently reproduce, evaluate, research and improve techniques currently used. Adapt new methods to existing procedures and modify current experiments through scientific knowledge and intuition. Maintain accurate and detailed records of all laboratory work and experiments. Develop, set-up and verify new procedures in the laboratory. Standardize and establish new published procedures; evaluate innovative techniques. Develop new assays and new protocols; design formats. Discuss relevant insights about experimental results with Director and provide useful recommendations and analysis. Troubleshoot and correct erroneous results or problems with laboratory equipment. Maintain and repair equipment; monitor proper use by personnel. Maintain optimal protocol and assay accuracy by conducting regular quality and reproducibility checks. Demonstrate performance at work, consistency in carrying out instructions, accuracy & attention to detail, achieving expected results & continuous improvement. - **Analysis Process Improvement** - *Contributing to analysis pipeline and procedure optimization, and in-house database update and improvement. Provide professional opinions and feedback on existing pipelines and databases, as well as commercial pipelines/ tools 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 in generating candidate gene lists, establishment of procedure, and test validation* - **Professional communications** - *Engaging in clinical and scientific discussions and presentations within the institution or at scientific conferences. Attend meetings on exome case discussion, and present clinical findings in the molecule genetics laboratory meetings. Attend and present scientific findings at scientific conferences.* - **Publish -** Draft, write and edit scientific reports, papers, journal articles and abstracts. Present at local, national and international scientific meetings. - **Teamwork -** *Effectively communicate with physicians, clinical variant curators, genetic counselors, lab technologists, bioinformatic specialists, and laboratory directors. Provide specific expert opinions on variants, genes and clinical findings. Work collaboratively with various teams within the laboratory.* Train and supervise the work of other laboratory personnel as appropriate. Maintain an integral role in the laboratory's meetings, presentations and publications. Present information on research and laboratory work to others at laboratory meetings, journal clubs and seminars. Demonstrate attendance and punctuality, ability to work independently & display initiative and dedication - **Financial Management -** Assist in preparing, writing and maintaining fiscal budget. Monitor expenditures and prepare capital expenditure requests. Prepare, approve and initiate check requests; track funding, maintain accurate balance and resolve any discrepancies. - **Leadership -** May act as a mentor to more junior staff, serve as the contact for resolution of complex issues, provide education, guidance and work direction. May provide input and feedback to managers on hiring decisions, professional development and performance management. **JOB QUALIFICATIONS** - PhD - 3+ years of work experience in a related job discipline **About Us** At Cincinnati Children’s, we come to work with one goal: to make children’s health better. We believe in a holistic 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.  **Cincinnati Children's is:** - Recognized by U.S. News & World Report as a **top 10** **** [**best Children's Hospitals in the nation**](https://nam02.safelinks.protection.outlook.com/?url=https%3A%2F%2Fwww.cincinnatichildrens.org%2Fnews%2Frelease%2F2024%2Fus-news&data=05%7C02%7CAmy.Carroll%40cchmc.org%7C93de02b9f76a4742be1c08dd5800246e%7C680254d4278b4aa1aca8c2600f79c533%7C0%7C0%7C638763479822580456%7CUnknown%7CTWFpbGZsb3d8eyJFbXB0eU1hcGkiOnRydWUsIlYiOiIwLjAuMDAwMCIsIlAiOiJXaW4zMiIsIkFOIjoiTWFpbCIsIldUIjoyfQ%3D%3D%7C0%7C%7C%7C&sdata=s8XomaXkUpfZGc%2FnmeIJcISoF1LeRWZvJcmu1adx%2Fjg%3D&reserved=0) for more than 15 years - Consistently among the top 3 Children's Hospitals for [**National Institutes of Health (NIH)**](https://nam02.safelinks.protection.outlook.com/?url=https%3A%2F%2Fwww.nih.gov%2F&data=05%7C02%7CAmy.Carroll%40cchmc.org%7C93de02b9f76a4742be1c08dd5800246e%7C680254d4278b4aa1aca8c2600f79c533%7C0%7C0%7C638763479822593004%7CUnknown%7CTWFpbGZsb3d8eyJFbXB0eU1hcGkiOnRydWUsIlYiOiIwLjAuMDAwMCIsIlAiOiJXaW4zMiIsIkFOIjoiTWFpbCIsIldUIjoyfQ%3D%3D%7C0%7C%7C%7C&sdata=JZfoub6%2Br%2B5pEtS%2FrdOB0eeAsIZsqL87n3VrPv0p6so%3D&reserved=0) Funding - Recognized as one of [**America’s Best Large Employers**](https://nam02.safelinks.protection.outlook.com/?url=https%3A%2F%2Fwww.cincinnatichildrens.org%2Fnews%2Frelease%2F2025%2Fforbes-large-employer&data=05%7C02%7CAmy.Carroll%40cchmc.org%7C93de02b9f76a4742be1c08dd5800246e%7C680254d4278b4aa1aca8c2600f79c533%7C0%7C0%7C638763479822601265%7CUnknown%7CTWFpbGZsb3d8eyJFbXB0eU1hcGkiOnRydWUsIlYiOiIwLjAuMDAwMCIsIlAiOiJXaW4zMiIsIkFOIjoiTWFpbCIsIldUIjoyfQ%3D%3D%7C0%7C%7C%7C&sdata=X0SUkXunhSLJwmed%2BdPPnUVEPGRwcXfpCkYJlxW0p1o%3D&reserved=0)  (2025)**,** [**America’s Best Employers for New Grads**](https://nam02.safelinks.protection.outlook.com/?url=https%3A%2F%2Fwww.forbes.com%2Flists%2Fbest-employers-for-new-grads%2F%3Fsh%3Ddc0d39d203ab&data=05%7C02%7CAmy.Carroll%40cchmc.org%7C93de02b9f76a4742be1c08dd5800246e%7C680254d4278b4aa1aca8c2600f79c533%7C0%7C0%7C638763479822609268%7CUnknown%7CTWFpbGZsb3d8eyJFbXB0eU1hcGkiOnRydWUsIlYiOiIwLjAuMDAwMCIsIlAiOiJXaW4zMiIsIkFOIjoiTWFpbCIsIldUIjoyfQ%3D%3D%7C0%7C%7C%7C&sdata=I84POWvNFnsSYUQ1SXPvvt1zzcX87gH8tS1JnP4OOhg%3D&reserved=0) (2025) - One of the nation's [**America’s Most Innovative Companies**](https://nam02.safelinks.protection.outlook.com/?url=https%3A%2F%2Fwww.cincinnatichildrens.org%2Fnews%2Frelease%2F2024%2Ffortune-innovative-companies&data=05%7C02%7CAmy.Carroll%40cchmc.org%7C93de02b9f76a4742be1c08dd5800246e%7C680254d4278b4aa1aca8c2600f79c533%7C0%7C0%7C638763479822618166%7CUnknown%7CTWFpbGZsb3d8eyJFbXB0eU1hcGkiOnRydWUsIlYiOiIwLjAuMDAwMCIsIlAiOiJXaW4zMiIsIkFOIjoiTWFpbCIsIldUIjoyfQ%3D%3D%7C0%7C%7C%7C&sdata=Dm274qvdTxYHO%2F13zWz32F%2BRGoym0eB%2B58jQdaDWM7g%3D&reserved=0) as noted by Fortune - Consistently certified as [**great place to work**](https://nam02.safelinks.protection.outlook.com/?url=https%3A%2F%2Fwww.greatplacetowork.com%2Fcertified-company%2F1000063&data=05%7C02%7CAmy.Carroll%40cchmc.org%7C93de02b9f76a4742be1c08dd5800246e%7C680254d4278b4aa1aca8c2600f79c533%7C0%7C0%7C638763479822626648%7CUnknown%7CTWFpbGZsb3d8eyJFbXB0eU1hcGkiOnRydWUsIlYiOiIwLjAuMDAwMCIsIlAiOiJXaW4zMiIsIkFOIjoiTWFpbCIsIldUIjoyfQ%3D%3D%7C0%7C%7C%7C&sdata=aJEeHUuejByX801M%2B%2FvCS1Nn4%2BSaFmot%2BNnjWr4cozo%3D&reserved=0) - A [**Leading Disability Employer**](https://nam02.safelinks.protection.outlook.com/?url=https%3A%2F%2Fwww.cincinnatichildrens.org%2Fnews%2Frelease%2F2024%2Fnational-organization-disability&data=05%7C02%7CAmy.Carroll%40cchmc.org%7C93de02b9f76a4742be1c08dd5800246e%7C680254d4278b4aa1aca8c2600f79c533%7C0%7C0%7C638763479822634475%7CUnknown%7CTWFpbGZsb3d8eyJFbXB0eU1hcGkiOnRydWUsIlYiOiIwLjAuMDAwMCIsIlAiOiJXaW4zMiIsIkFOIjoiTWFpbCIsIldUIjoyfQ%3D%3D%7C0%7C%7C%7C&sdata=izGN1F3RG04WqzFRmgf03FdPB9P4VcQwNaFgtR3cai4%3D&reserved=0) as noted by the [**National Organization on Disability**](https://nam02.safelinks.protection.outlook.com/?url=https%3A%2F%2Fnod.org%2Fleading-disability-employers%2F&data=05%7C02%7CAmy.Carroll%40cchmc.org%7C93de02b9f76a4742be1c08dd5800246e%7C680254d4278b4aa1aca8c2600f79c533%7C0%7C0%7C638763479822642571%7CUnknown%7CTWFpbGZsb3d8eyJFbXB0eU1hcGkiOnRydWUsIlYiOiIwLjAuMDAwMCIsIlAiOiJXaW4zMiIsIkFOIjoiTWFpbCIsIldUIjoyfQ%3D%3D%7C0%7C%7C%7C&sdata=uyrIvIzJMgUGLRCEx1XSGdzjvoVy4Q6QGfrHZYSUzXU%3D&reserved=0) - Magnet® designated for the fourth consecutive time by the [**American Nurses Credentialing Center (ANCC)**](https://nam02.safelinks.protection.outlook.com/?url=https%3A%2F%2Fwww.nursingworld.org%2Fancc%2F&data=05%7C02%7CAmy.Carroll%40cchmc.org%7C93de02b9f76a4742be1c08dd5800246e%7C680254d4278b4aa1aca8c2600f79c533%7C0%7C0%7C638763479822650553%7CUnknown%7CTWFpbGZsb3d8eyJFbXB0eU1hcGkiOnRydWUsIlYiOiIwLjAuMDAwMCIsIlAiOiJXaW4zMiIsIkFOIjoiTWFpbCIsIldUIjoyfQ%3D%3D%7C0%7C%7C%7C&sdata=R1YUGYhRQw9ZFEm%2FVyW3uJw8b8hsKQOwsobJD5lbQsA%3D&reserved=0)  We Embrace Innovation—Together. We believe in empowering our teams with the tools that help us work smarter and care better. That’s why we support the responsible use of artificial intelligence. By encouraging innovation, we’re creating space for new ideas, better outcomes, and a stronger future—for all of us. *Comprehensive job description provided upon request.* *Cincinnati Children’s is proud to be an Equal Opportunity Employer committed to creating an environment of dignity and respect for all our employees, patients, and families. All qualified applicants will receive consideration for employment without regard to race, color, religion, sex, age, genetic information, national origin, sexual orientation, gender identity, disability or protected veteran status. EEO/Veteran/Disability*