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Chunk #22 — Beyond SNVs and indels

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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
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Comparing our findings to two previous short-read studies on different smaller datasets40,41, 356 sequences (251 kb) are unique to our call set. Additionally, we resolved the length and both breakpoints for 94 events (104 kb) for which only one breakpoint had been reported (Fig. 3c). Further investigation of the overlap with insertions called using long reads on 15 genomes42, showed that—with a single exception—all previously described events with an allele frequency of more than 12% could be confirmed (Supplementary Fig. 26).