Yale University School of Medicine, Department of Genetics
Location: New Haven, Connecticut
Type: Full Time
Required Education: Doctorate
Academic / Research
Years of Experience:
2 - 4
Internal Number: DNA Lab ARS
The DNA Diagnostic Laboratory in the Department of Genetics seeks a full-time Assistant Director for diagnosis of genetic disorders in a CLIA-certified facility. The emphasis of this position is interpretation of whole-exome sequence data and writing medical reports, but the laboratory also offers rapid whole-genome sequencing and is developing novel testing based on a variety of cutting-edge methodologies. Responsibilities include:
Variant review based on ACMG/AMP guidelines and high-level interpretation of genetic variants in complex cases
Formulating and editing comprehensive genetic test reports
Participating in communication of test results to health care providers
Assisting in supervising and directing the operations of the DNA. Diagnostics Laboratory including quality control for CAP and CLIA
Aiding in the curation of laboratory databases and statistical data
Participating in research and development.
The applicant should hold a PhD, MD or both, and be board certified/eligible in Clinical Molecular Genetics, Laboratory Genetics and Genomics, or Molecular Genetic Pathology by the American Board of Medical Genetics (ABMGG) or the American Board of Pathology (ABP). Strong preference is given to candidates with clinical knowledge of hereditary disease and experience with management of genome-scale sequence data. We welcome recent graduates or those who will be board-eligible by June 2022. More senior applicants will be considered as well.
The successful candidate should be highly motivated and have the following attributes:
Excellent written and verbal communication skills with ability to adapt between technical. and layperson communication
Excellent organizational skills and ability to multitask and prioritize work
Attention to detail and problem-solving skills
Ability to work independently and as part of a broader team.
Review of applications will begin immediately and continue until the position is filled. Please send a CV, a cover letter addressing experience with interpretation of genomic data, and three letters of reference to email@example.com and Hui.firstname.lastname@example.org.
Yale University is an Affirmative Action/Equal Opportunity Employer and welcomes applications from women, persons with disabilities, protected veterans, and members of minority groups.
About Yale University School of Medicine, Department of Genetics
The information in genomes provides the instruction set for producing each living organism on the planet. While we have a growing understanding of the basic biochemical functions of many of the individual genes in genomes, understanding the complex processes by which this encoded information is read out to orchestrate production of incredibly diverse cell types and organ functions, and how different species use strikingly similar gene sets to nonetheless produce fantastically diverse organismal morphologies with distinct survival and reproductive strategies, comprise many of the deepest questions in all of science. Moreover, we recognize that inherited or acquired variation in DNA sequence and changes in epigenetic states contribute to the causation of virtually every disease that afflicts our species. Spectacular advances in genetic and genomic analysis now provide the tools to answer these fundamental questions.
Members of the Department of Genetics conduct basic research using genetics and genomics of model organisms (yeast, fruit fly, worm, zebrafish, mouse) and humans to understand fundamental mechanisms of biology and disease. Areas of active investigation include genetic ...and epigenetic regulation of development, molecular genetics, genomics and cell biology of stem cells, the biochemistry of micro RNA production and their regulation of gene expression, and genetic and genomic analysis of diseases in model systems and humans including cancer, cardiovascular and kidney disease, neurodegeneration and regeneration, and neuropsychiatric disease. Members of the Department have also been at the forefront of technology development in the use of new methods for genetic analysis, including new methods for engineering mutations as well as new methods for production and analysis of large genomic data sets.
The Department sponsors a graduate program leading to the PhD in the areas of molecular genetics and genomics, development, and stem cell biology. Admission to the Graduate Program is through the Combined Programs in Biological and Biomedical Sciences (BBS).
In addition to these basic science efforts, the Department is also responsible for providing clinical care in Medical Genetics in the Yale New Haven Health System. Clinical genetics services include inpatient consultation and care, general, subspecialty, and prenatal genetics clinics, and clinical laboratories for cytogenetics, DNA diagnostics, and biochemical diagnostics. The Department sponsors a Medical Genetics Residency program leading to certification by the American Board of Medical Genetics. Admission to the Genetics Residency is directly through the Department.