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Chunk #30 — Discussion

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708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits.
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More importantly, our study demonstrates that substantial coding and non-coding genetic variation at the DISC1 locus remains undiscovered. Despite sequencing over 1500 subjects, we have probably captured only ∼40% of the extant DISC1 variants in just the European population. Crowley et al.23 sequenced 2.7 kb of DISC1 exons and 5' and 3' regulatory sequence in 1460 samples of European or African origin. We observed 13/38 (34%) of the variants genotyped in the replication phase, supporting the argument for an abundance of rare variants.