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by eggie
3066 days ago
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I've participated in several large projects that worked to detect SVs from short reads in humans. The results, which remain best of class, are simply disappointing. A tiny fraction of the variants detected were actually resolvable to near-base pair resolution. The vast majority were described in approximate terms, using estimates of breakpoints and allelic structure. Most structural variation I've seen based on whole genome assemblies is not even classifiable into neat categories like "deletion" or "insertion". If you think that "most" things are detected with short reads then you are deluded by the dominant technology. |
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