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Next Generation Sequencing (NGS) in Human Genetics

This page will not explain human genetics in detail, instead major NGS application fields are briefly introduced. Different projects are implemented in order to sequence whole human genomes exemplarily we refer to the 100,000 Genomes Project (Genomics England) and the 100K Genome Project (FDA, UC Davis). The obtained sequence information will lead to a better understanding in human genetics regarding genetic predisposition for cancer, inherited diseases, evolution, and population genetics.

Next Generation Sequencing in Inherited Diseases

There are several sequencing projects and data bases that focus on particular genomic regions such as the Human Encode Project or on specific disorders and syndromes for example the MSSNG (Autism genomic database). These projects where initiated in order to streamline sequencing efforts and genetic information related to specific inherited diseases. Some example of inherited diseases are autism, epilepsy, cystic fibrose, haemophiliac, developmental delay, and neuro-degeneration. A number of target specific NGS panels for biomarker screening of inherited disorders exist, a comprehensive list of NGS panels with more detailed information is provided under NGS targeted gene panels.

Different medical centres and NGS service laboratories are specialized in NGS based molecular diagnostics of inherited disease. 

Next Generation Sequencing in Prenatal and Neonatal Testing

The application of NGS in prenatal and neonatal testing is closely related to screening for potential inherited diseases. Different commercial targeted NGS gene panels or NGS services for prenatal testing are available. These solutions are used for example in genetic preimplantation screening or for identification of chromosomal causes for miscarriage.

Next Generation Sequencing in Human Identification (HID) and Forensic

There are different NGS based human identification solutions available that are used for forensic analysis. These solutions can also help to determine the continental bio-geographic ancestry. Another solution for genetic discrimination is the sequencing of the Human Leukocyte Antigen (HLA) genes. You will find a list of different NGS panels for application in forensic on our website.

For more information on NGS application in forensic we refer to the publication list

Next Generation Sequencing in Personalized Medicine

NGS application in personalized medicine refers to the utilization of genetic information for diagnostics and the targeted treatment of individual patients. Personalized medicine includes for example the detection of specific tumour markers and the targeted utilisation of individual therapies and treatments for these tumours. NGS application in personalized medicine is not only focussing on cancer research and treatment, it also includes applications in prenatal diagnostics, inherited disease screening and diagnostics and treatment of infection diseases such as the diagnosis and characterisation of specific pathogens (HIV, HCV) and the corresponding individual treatments of these infections.

Next Generation Sequencing in Research

As genetic information is gaining more and more meaning not only in human genetics and diagnostics we will not go into detail. This website provides different sources for more detailed information about NGS applications in research related to human genetics you will find publications, webinars, workshops, and a list of scientific meetings

NGS application in research is the basis for the development of new diagnostic solutions such as targeted gene panels and the development of therapeutic applications in human medicine. 

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