Bioinformatics for personal genome interpretation

http://bib.oxfordjournals.org/content/13/4/495.full

Key Points

  • Vast amounts of variation data from genome sequencing studies need to be analyzed to understand its association with various phenotypes.

  • Well-curated databases, reliable tools for gene prioritization and accurate methods for predicting the impact of variants will be essential for the interpretation of personal genomes.

  • Standard and unified protocols for testing the functional impact of genetic variations are critical for their accurate annotation.

  • Experimental studies and computational models describing the gene/protein interaction networks and aiming at capturing the fullcomplexity of the human genome will be key to leveraging personal genomic data for the precise diagnosis and effectivetreatment of disease.

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