Content of review 1, reviewed on July 31, 2014

The authors introduce a web based genome browser designed to automate analysis, visualization and data release of Whole Genome Sequence and GWAS variant. This tools is useful for larger scale association test by different statistical measurements on cohort studies, and has the potential to be a welcome resource in genetics education and public health. However, I have some suggestions as follows:

Major Compulsory Revisions

  1. The author performed a GWAS meta-analysis on AIDS traits and 123 association tests on different disease groups by associating many trait/traits combination with genotype. However, the author didn’t show significant results for this meta-analysis except listing several known genes association as the example of tool representation. I cannot understand why author paid more attention on statistical test description on methods part if the author didn’t plan to draw interesting conclusions on data analysis.

  2. The dynamic highway for displaying GWAS result is good, but other functions such as Manhattan plots and table list are less interactive and isolated. I suggest the author integrate those function into the highway browser.

Minor Essential Revisions:
  1. Annotations of human genome variation have identified some 12 million single nucleotide polymorphisms (SNPs) " -> dbSNP138 already reported over 60M SNPs.

  2. Genotyping arrays that resolve millions of common SNPs have enabled over 1000 Genome Wide Association Studies (GWAS)" -> the number is underestimated. For example, the latest version of GWASdb have collected over 2000 GWASs.

Discretionary Revisions:

There are lot of available unabridged GWAS dataset for some diseases. To make the tool useful, the author should integrate more GWAS result in their active dataset repository.

Level of interest:

An article of importance in its field

Quality of written English:

Needs some language corrections before being published

Statistical review:

Yes, and I have assessed the statistics in my report.

Declaration of competing interests:

No

Source

    © 2014 the Reviewer (CC BY 3.0 - source).

References

    Anton, S., Sergey, M., Nikolay, C., Paul, G., Mikhail, R., Pavel, D., Andrey, S., Li, G., Jennifer, T., Sher, H., Hutcheson, D. H., K., O. T., Sharyne, D., Edward, G., A., J. D., Efe, S., Mark, V. N., Richard, H. P., L., B. Z., J., O. S. 2014. GWATCH: a web platform for automated gene association discovery analysis. GigaScience.