New technologies for integrating genomic, environmental and trait data

Abstract

Rare diseases, which (by definition) occur at a frequency less than 1/2000 per allele - are individually rare, yet common collectively (10% affected and 50% carrier rates). There are 1800 genes which have tests considered highly predictive and actionable. Human genes with known variants causing insomnia, narcolepsy, and circadian variation include Prion Protein Fatal Familial Insomnia (PRNP), hypocretin (HCRT), DQ beta 1 (DQB1), and period circadian protein homolog (PER2). We have developed human genome sequencing technology that lowered costs a million-fold over the past 6 yr. This has increasingly enabled the use of the causative alleles above, which are far more valuable than merely correlated or common variants. To expand this further we have established community resources for open access collection, integration and interpretation of diverse personal genomic, environmental and trait data (evidence.personalgenomes.org).