Hi,
This may sound like a naive question, but I have been trying to come up with answers for a couple days and haven't yet been able to. Thank you in advance for any input.
Now that we can detect human sequence variations (SNPs, indels, Structural Variants, etc) based on the set of paired-end reads, I wonder if there is still a need to assemble the original sequence. Wasn't the point to detect the variations?
And we don't need to know the assembled sequence for the new sequence anymore to gain its gene positions because its paired-end reads can be mapped back to the human reference genome, so we can learn the gene positions from there.
So aside from saving space (100 something GB vs 3GB) and time to analyze the data, do we really need to assemble any new human genome that has been resequenced?
Thank you!
This may sound like a naive question, but I have been trying to come up with answers for a couple days and haven't yet been able to. Thank you in advance for any input.
Now that we can detect human sequence variations (SNPs, indels, Structural Variants, etc) based on the set of paired-end reads, I wonder if there is still a need to assemble the original sequence. Wasn't the point to detect the variations?
And we don't need to know the assembled sequence for the new sequence anymore to gain its gene positions because its paired-end reads can be mapped back to the human reference genome, so we can learn the gene positions from there.
So aside from saving space (100 something GB vs 3GB) and time to analyze the data, do we really need to assemble any new human genome that has been resequenced?
Thank you!
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