ngrl.org.uk
National Genetics Reference Laboratories
http://www.ngrl.org.uk/Mailto:andrew.devereau@cmft.nhs.uk
National Genetics Reference Laboratories. Supporting the Genetic service Network. The National Genetics Reference Laboratories (NGRLs) in Manchester. Were established in 2002 by the UK Department of Health to support NHS diagnostic genetic services. Our remits included development, assessment and validation of new technologies; informatics, bioinformatic services and tools; quality management systems; development of reference and control reagents. A database of clinical quality genetic variants; SNPCheck.
varioml.org
VarioML FAQ
http://www.varioml.org/faq.htm
Open-source biomedical application development using VarioML. Latest development branch of VarioML spec. Is up on VarioML@GitHub. JAVA API for VarioML. Report problems or make feature requests using VarioML's issue tracker. VarioML Pathogenicity, Genetic Origin, Inheritance, and other vocabularies defined in SKOS. VarioML Users and Developers Group. At the GEN2PHEN Knowledge Center. To the VarioML Users and Developers Group. What is the VarioML data format? Where can I get more information about VarioML?
varioml.org
VarioML Variant Basics
http://www.varioml.org/varioml_basic.htm
VarioML is a data integration solution that creates a layer of meaning above the many variation standards and formats, enabling them to be integrated and made sense of as a whole. VarioML takes the elements found in the many forms of variant data in use in research and the clinic, and makes them equivalent. These elements can now be re-used across diverse biomedical environments, between use-cases that have previously been incompatible. To learn more about variation nomenclature. If you have created or a...
