Follow the tweets at #AGBT and if you are at the conference visit posters 334 and 335 (abstracts below). Also, visit Lanai 189 to see the latest advances in genome technology and software from the Caliper and Geospiza organizations within PerkinElmer.
Poster 335: Why is the $1000 Genome so Expensive?
We describe a model system that uses a variety of PerkinElmer products to address three problems that continue to impact the widescale adoption of genomics-based medicine: organizing and tracking sample information, sample preparation, and whole genome data analysis. Specifically, PerkinElmer’s GeneSifter® LIMS and analysis software, Caliper instrumentation, and DNA sequencing services can provide independent or integrated solutions for generating and processing data from whole-genome sequencing.
Poster 334: Limitations of the Human Reference Genome Sequence
While many of the observations have been anecdotally understood, quantitative assessments of resources based on the reference sequence have been lacking. These findings have implications for the study of human variation and medical genetics, and ameliorating these discrepancies will be essential for ushering in the era of personalized medicine.