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. 2015 Jul 9;6:7501. doi: 10.1038/ncomms8501

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Diagram depicting the set-unique variants (not to scale, cases n=1,002, controls n=931). The set NS represents all variants that are scored by ISUB, and the set DEL includes only those variants that are predicted to be deleterious. In particular, the set DEL includes stop-altering and splice site variants.