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Chunk #3 — 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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To obtain accurate information on sequence variants across the BXD family (Fig. 2a), we generated ∼8.26 billion reads using six paired-end libraries with different insert sizes from the D2 parent using two sequencing platforms. A total of 4.5 billion reads (262 Gb nucleotides) were aligned to the genome of the other parent of the BXD family (B6) that serves as the mouse reference genome. The mouse genome consists of ∼2.6 Gb, and we generated ∼100-fold coverage (Fig. 2b and Supplementary Data 3) and sequenced 99.96% of the reference genome excluding gaps and regions of low complexity.