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. 2016 Sep 15;12:227–238. doi: 10.1016/j.ebiom.2016.08.037

Fig. 1.

Fig. 1

Workflow of variant filtering in three steps.

SNV = Single Nucleotide Variant; GATK = Genome Analysis Toolkit; ExAC = Exome Aggregation Consortium, NFE = Non Finnish Europeans, ~ 30,000 exomes; ESP = Exome Sequencing Project NHLBI-ESP, EA = Americans of European Ancestry, ~ 4200 exomes.