text: Whole exome sequencing is a brute-force approach that involves using modern day sequencing technology and DNA sequence assembly tools to piece together all coding portions of the genome.  The sequence is then compared to a reference genome and any differences are noted.  After filtering out all known benign polymorphisms, synonymous changes, and intronic changes (that do not affect splice sites), only potentially pathogenic variants will be left.  This technique can be combined with other techniques to further exclude potentially pathogenic variants should more than one be identified.