The Consortium aims to produce and pool high-quality sequence data for several thousand spina bifida cases. Many of the DNA samples in existing cohorts derive from buccal swabs or bulk saliva samples. Our pilot studies indicate that these samples are not appropriate for WGS. Therefore we propose to collect whole exome sequence data from these samples. For blood-derived DNA, WGS may be considered.
Cases in which DNA has also been collected from the subject's family members will be prioritized for Consortium analysis. The added information from parental sequencing, for example, makes it possible to assess each genetic variant as inherited or de novo. In cases with relevant family history, family structure and affectation status can be taken into account to isolate putative causative variants.
Members of the SBSC will retain a level of control over their own data, safeguarding against the potential downsides of datasharing. Our third-party platform allows each member full access to their own data, and the ability to query datasets from other Consortium members in a constrained fashion. This solution protects each Consortium member's autonomy while allowing members to explore the pooled data.
The Consortium is focused on a NGS approach to understand SB genetics. However, other datasets such as SNP genotyping, candidate gene-based targeted sequencing and long-read or linked-read datasets for SV mapping are welcome for inclusion as well. These orthogonal methods will broaden the scope of the Consortium's planned analysis, allowing a more comprehensive picture of SB genetics.
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