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:

STEP
1

 
Whole exome sequencing of 50 trio samples are performed to identify novel variations associated with a specific disease.

STEP
3

 
We annotate the variation list, populate a database integrating the experiment data and the relevant external databases.

STEP
5

 
We deliver supplementary data, e.g. publication quality plots and tables of the analysis.
 

STEP
2

 
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.

STEP
4

 
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.