Sentences with phrase «uses cytogenetics»

Dr. Talkowski has performed seminal studies to introduce high - resolution genomics techniques to delineate the types of genetic variation that were classically defined using cytogenetic methods, which has discovered new classes of complex genomic variation in the human genome that are remarkably common yet otherwise cryptic to conventional technologies.

Such mutations have been conventionally assessed in clinical diagnostics using cytogenetic or microarray testing.

Not exact matches

The scientists, including Florian Reisinger from the Institute of Virology (HMGU) and Dr. Kristian Unger from the Research Unit Radiation Cytogenetics (HMGU) showed this using mouse models.

A large variety of methods is used including genetic, molecular and cytogenetic techniques, fluorescence in situ hybridisation and DNA «combing», as well as high throughput sequencing approaches such as DNA - seq for mutation landscape analyses, RNA - seq for transcriptome analyses and ChIP - seq mapping of chromatin - associated proteins and their genome - wide modulation in response to DNA damages.

This approach is now being used to derive embryonic stem cells from a variety of strains including disease models from which in vitro tools are in demand, including mouse models of Alzheimer's disease, cytogenetic disorders (Turner's syndrome and Down syndrome), and tool strains for systems genetics.

Cytogenetic identification of chromosome abnormalities has become essential for the clinical management of patients with leukemia and is currently used to help categorizing patients into risk groups.