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Chunk #2 — Methods (for on-line version only) — Variant frequency

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
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The frequency of variants in the offspring were determined by comparison with dbSNPv132 and 1,637 whole-exome controls including 400 parents. Variants were classifed as: ‘novel’, if only a single allele was present in a parent and none were seen in dbSNP or the other control exomes; ‘rare’, if they did not meet the criteria for novel and were present in <1% of controls; and ‘common’, if they were present in ≥1% of controls.