Genotyping is the process of determining the genetic make-up of individuals. Knowing the genetic make-up in different groups of individuals makes it possible to identify candidates which are most likely related to a particular disease.
Genotyping requires careful experimental planning, in the case of complex traits a high number of samples might be necessary to get the required statistical power.
A typical association study workflow follows these steps:
Whole exome sequencing of 50 trio samples are performed to identify novel variations associated with a specific disease.
Raw data analysis is often part of the sequencing package. Alternatively, Larkbio can develop and run the workflow to get analysis ready variations using the GATK pipeline.
We annotate the variation list, populate a database integrating the experiment data and the relevant external databases.
A statistical analysis is performed to get the most relevant candidates. The pathways most likely related to disease are identified based on the sets of variants in the samples.
We deliver supplementary data, e.g. publication quality plots and tables of the analysis.