An illustration of a common research process done when investigating a potential genetic disease. This interdisciplinary process normally involves researchers from three distinct disciplines: bio-medical discipline, Deep Sequencing laboratory, and bioinformatics discipline. (1) Researchers from the bio-medical discipline identify a potentially genetic disease. (2) Genomes of afflicted individuals or of whole families are sequenced using Deep Sequencing technology. (3) The sequences acquired are compared with a consensus sequence in order to find SNPs. (4) A list of SNPs and Indels is consequently generated and is filtered. (5) Finally a list of SNPs and Indels is produced which possibly contains the disease causing mutation. The list usually contains either novel or clinically associated SNPs (6) These lists are submitted to the researchers in the bio-medical discipline, for further analysis.
Ben-Zvi et al. BMC Research Notes 2012 5:338 doi:10.1186/1756-0500-5-338