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Chunk #7 — 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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Insertions and deletions (indels) in coding sequences can be highly disruptive, especially when they introduce frameshift mutations. We found that most small indels (98.74%) are in introns or intergenic regions, but 542 small deletions and 641 small insertions are in coding exons (Supplementary Fig. 2 and Supplementary Note 1). The small coding indels are enriched in trinucleotides, which account for 32% of small coding deletions and 38% of small coding insertions. Of the remaining coding indels, 45 are predicted to result in frameshift mutations through deletions (25) or insertions (20) (Supplementary Data 5).