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Chunk #8 — Results — Whole-genome sequencing and variant detection

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Joint mouse-human phenome-wide association to test gene function and disease risk.
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Sequences from SOLiD and Illumina platforms were combined to accurately detect copy number variants (CNVs). We detected 16,817 CNVs, consisting of 4,296 gains and 12,521 losses (Fig. 2c) with an average length of 34.9 and 56.7 kb, respectively (Supplementary Fig. 3). Of copy number gains relative to the B6 genome, 79 cover 101 genes completely, while 300 cover one or more coding exons in 279 genes. Of the losses, 197 cover 259 genes completely, while 993 cover one or more coding exons in 276 genes.