Wed, Jan 14 2015 at 4:15 AM
Customer asks about strategies of investigating disease mechanisms by sequencing approaches.
Fri, Dec 19, 2014 at 10:59 AM
AccuraScience LB: Many methods are potentially useful for identifying causal variants or prioritizing loci for further mechanistic studies of Mendelian and complex diseases. Some examples are pathway-based association analysis, and network-based association analysis. For rare variants, strategies have been developed to improve the power of the analysis by pooling multiple variants together.
Besides association analysis-based strategies, linkage analysis-based methods (and combinations of association- and linkage-based methods) could be more effective in some cases. Thus, if you can get the data from individuals of the same family, they could turn out to be very useful.
Most of analysis methods involved, however, were developed very recently. It is hard to predict which strategy would work better than others, or whether some "causal variants" can be definitively identified in the end, or all what we can get is a list of prioritized candidate variants that require further mechanistic studies. Tuning may be needed for existing methods, and in some cases even new methods may need to be developed to get the best out of the data. In short, this will be a research project rather than an engineering project.
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Note: LB stands for Lead Bioinformatician. An AccuraScience LB is a senior bioinformatics expert and leader of an AccuraScience data analysis team.
Disclaimer: This text was selected and edited based on genuine communications that took place between a customer and AccuraScience data analysis team at specified dates and times. The editing was made to protect the customer’s privacy and for brevity. The edited text may or may not have been reviewed and approved by the customer. AccuraScience is solely responsible for the accuracy of the information reflected in this text.