This work, supported by Geospiza's SBIR targeting ways to improve mutation detection and annotation, explored some the resources and assumptions that are used to measure and understand sequence variation. As we know, a key deliverable of the human genome project was to produce a high quality reference sequence that could be used to annotate genes, develop research tools like genotyping and microarray assays, and provide insights to guide software development. Projects like HapMap used these resources to provide additional understandings in terms of genetic linkage in populations.
|Decreasing sequencing costs|
|Number of variants by dbSNP build|
The significance of this work is that it documents what many are anecdotally experiencing. As we continue to learn about the contributing role of rare variation in human disease we need to fully understand how current resources can be used and work to resolve discrepancies in order to create an era of personalized medicine.
(2012). Limitations of the Human Reference Genome for Personalized Genomics, PLoS ONE, DOI: 10.1371/journal.pone.0040294.t002