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Chunk #5 — MATERIALS AND METHODS — Evaluation of CHRNA5 coding variants

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Rare, low frequency and common coding variants in CHRNA5 and their contribution to nicotine dependence in European and African Americans.
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Previously, Haller et al.,22 performed pooled sequencing of CHRNA5 in a sample that contributed 511 participants to the targeted sequencing in this project and identified 4 CHRNA5 coding variants beyond the well-studied risk variant rs16969968. Targeted sequencing found these 4 coding variants in the same 34 people as pooled sequencing. Furthermore, targeted sequencing identified 6 additional singleton variants among the 511 people included in both analyses. The high quality of the targeted sequencing data was verified using the HumanExome-12v1-1 array. All 2820 individuals included in our primary analysis were genotyped using this array, and the concordance for the common and low frequency coding variants was 99.9%.