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.

Stitziel et al. Genome Biology 2011 12:227   doi:10.1186/gb-2011-12-9-227
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