Over the past decade, the cost of next generation sequencing has decreased by one thousand fold, and bioinformatic analysis methods have proliferated. A concensus reference genome and widely used toolkits such as GATK make it easier to standardize analysis. With these advances, it is now within our reach to fully describe the genetic etiology of many disesases, both rare and common. As one of the most common birth defects, spina bifida is a natural target for study.
The Consortium will bring together independent research groups to work toward a common goal: solving the genetics of spina bifida.
There are great advantages to the cooperative approach that the Spina Bifida Sequencing Consortium advocates. First, it allows us to pool patient cohorts, the precious resources that member labs have carefully developed over many years. In large-scale genetic studies, the total number of subjects is the single most important factor in the study's success or failure. We plan to assess mutational recurrence at the gene level for this study, and the larger the summed cohort, the more recurrence we can expect to uncover. Additionally, by pooling cohorts with Consortium members we will diversify the ethnic makeup of the subject group, broadening the scope of our findings.
Second, through shared expertise, our analysis will be thoroughly and transparently vetted. The Gleeson Lab brings great clinical genetic expertise to the table, with many gene discoveries made in developmental neurological disorders. The Gleeson Lab also has the computational resources in place to host and transform large datasets. Other contributors will bring expertise in multifactorial and polygenic analytic methods.
Finally, the Consortium will mitigate the difficulties of working with historically consented subjects, whose samples' sequence data are not eligible to be included in public repositories. Through the Consortium, funding for sequencing and the ability to privately share data for these precious samples will be available.
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