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Chunk #29 — Discussion

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Annotation of functional variation in personal genomes using RegulomeDB.
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Furthermore, our system still represents an early functional annotation of the genome. Once enough data are available, it will be possible to match annotations from specific tissues allowing for even more detailed hypotheses. Also, with the limited number of conditions that are presently covered, it is very difficult to score a gain of a regulatory site. In this scenario, we might show a new PWM, but there will be no additional functional data, resulting in a poor score for the site. Nonetheless, the database and approach have significant value in their present form. As additional functional data are collected from a variety of sources, these limitations will diminish. A collective community goal is to have sufficient information such that functional information is available on every base in the human genome at a level to be predictive of molecular and phenotypic outcomes.