Genetics

If you have had, or are planning on having your genome sequenced you can store the results in your PKB record. Companies such as the Rare Genomics Institute offer this service and can output the results into a form which you can then upload and store on PKB. Sequencing your genome can offer a whole range of benefits such as identifying undiagnosed diseases, spotting unknown genetic causes or helping you to learn more about your genetic make-up.

Finding the Genetics page

What file types can I upload?

If you are thinking of having your genome sequenced, ask for a VCF file as this is the most useful for geneticists to help you interpret. VCF stands for Variant Call Format, and this file format is used by the 1000 Genomes project to encode SNPs and other structural genetic variants. It was subsequently used as the standard for other genomics programs like England's 100,000 Genomes project and the USA's Precision Medicine Initiative.