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. 2011 Sep 14;12(9):227. doi: 10.1186/gb-2011-12-9-227

Figure 1.

Figure 1

Typical heuristic filtering applied to exome sequencing projects aimed at novel gene discovery for Mendelian disorders, along with key assumptions at each step. Each individual carries approximately 3 million SNPs. Sequential filters shown here can be applied to reduce the number of potential disease-associated variants.