But the translation of these data to actionable medicine is complicated by the challenges of extracting meaningful information from high-throughput sequencing data. The challenge is beyond computational, as bioinformatics is bound by the experimental methods employed to produce genomic data. A successful experiment minimizes false positives and depends on the optimization of an entire pipeline, from sample preparation to computational analysis.
To get some help and advice, SEQanswers, launched in 2007, is an open access community for collaboratively decoding genomes. So far it has over 4,000 members and has been used by over 4o publications.
Citation: Li JW, Schmieder R, Ward RM, Delenick J, Olivares EC, Mittelman D., 'SEQanswers: an open access community for collaboratively decoding genomes', Bioinformatics. 2012 May 1;28(9):1272-3. doi: 10.1093/bioinformatics/bts128. Epub 2012 Mar 13
H/T Andrew McArthur, David Mittelman