3 ms·
These snippets can be used to reconstructing the whole genome sequence but it's done statistically so they're not 100% confident. Some sections have more covera
by cjbgkagh 4y ago
These snippets can be used to reconstructing the whole genome sequence but it's done statistically so they're not 100% confident. Some sections have more coverage than others. You want to keep the raw reads around just in case.
Longer higher quality reads have been developed and for them less coverage will be needed and this will produce smaller files with higher degrees of confidence.
- biotinker 4y agoDepends on the use case. If one is trying to broadly sequence a genome or exome, all of that is correct. For something like a liquid biopsy test that's looking for circulating tumor DNA, a given mutation may only exist in 0.5% of the reads that cover a particular locus. Then you have to deduplicate to tell which are PCR duplicates of the same original strand, and which have different progenitor fragments. Low-coverage long reads are bad for this.
- cjbgkagh 4y agoI had not thought of that use case but that does make sense.