Archive for December 5th, 2013

December 5, 2013

Personal Genomics

Personal genomics [jee‐noh-miks] (sequencing and analysis of the genome of an individual) employs several techniques, including single-nucleotide polymorphism (SNP) analysis chips (typically 0.02% of the genome), or partial or full genome sequencing. Once the genotypes are known, the individual’s genotype can be compared with the published literature to determine likelihood of trait expression and disease risk. 

Automated sequencers have increased the speed and reduced the cost of sequencing, making it possible to offer genetic testing to consumers. 23andMe sells mail order kits for SNP genotyping. The information is stored in a user profile and used to estimate the genetic risk of the consumer for over 240 diseases and conditions, as well as ancestry analysis.

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