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The NGS Hub improves NGS gene panel database for human genetics

The NGS Hub, Berlin, 18 February 2016 - improved database on NGS targeted gene panels for human genetics now online
The health care system including hereditary disease screening and diagnostics, prenatal diagnostics and reprogenetics is a major field for Next Generation Sequencing (NGS) technology application.

NGS targeted gene panels enable the targeted amplification and subsequent high throughput sequencing of different genes or genome regions in the human genome. A number of genes are described wherein certain variants respectively mutations are associated with certain syndromes or hereditary diseases (disorders). These variants can lead to dysfunctions in signaling pathways, metabolism and enzymes, irregular or abnormal RNA expression of certain genes, mitochondrial defects (disorders of the mitochondrial DNA), and severe genetic disorders. Additional, epigenetic effects like changes in DNA methylation can lead to genetic dysfunction. 

Some hereditary syndromes and diseases that are associated with certain genetic variants (mutations) are for example: autism, different cardiovascular diseases, maturity-onset diabetes of the young (MODY), epilepsy, hypercholestorlemia, neurogenetics and muscular disorders, disorders of the kidney, the respiratory and the ophthalmic system. 

This database represents a global web resources of NGS targeted gene panels for application in human genetics. On this website genetic testing panels from different providers are introduced. Some tests are available as commercial test kits others are only offered as in house tests from the corresponding NGS or diagnostics service laboratory.

For more information on the targeted genes tested in the individual panels please contact the corresponding panel provider. For general information about genes and its functions we recommend the NCBI Gene Databases (http://www.ncbi.nlm.nih.gov/gene). For more detailed information on potential variants we recommend the CliVar database from NCBI

The tests are classified into different categories according to common syndromes, diseases or organs, tissues, and body systems. A number of tests for genetic testing of multiple hereditary diseases and syndromes is listed in a general human genetic testing category. Different test panels for less common and rare syndromes and diseases are introduced in a separate category.

This database is established as knowledge base in order to improve the transparency on NGS applications in human genetics including screening, prevention, prognosis, treatment optimization, and diagnosis. The here provided information and resources can support health professionals during clinical diagnosis, prognosis, and decision making for treatment of certain hereditary diseases.

Find NGS panels for human genetics.


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