3 ms·
As others have asked in this thread, what does "fully sequenced" mean to the layman?
by bonestamp2 3y ago
As others have asked in this thread, what does "fully sequenced" mean to the layman?
- yellowcake0 3y agoIt looks like from the preprint that they sequenced the Y chromosome of HG002, which was one of the original 1000 genomes samples from way back in the day, still held in deep freeze at a number of biobanks. Short-read sequencing data is a notoriously bad datatype for reconstructing the low-complexity / repetitive regions of genomes, so up until recently the most commonly used reference genomes have left many of these regions "dark". According to the preprint, the Y chromosome has the highest density of these low-complexity regions. It's also something of a bioinformatic nuisance when constructing a generic human reference genome, as it's only present in 50% of the population.
- scandum 3y agoIsn't the problem the absence of random DNA? I wouldn't call random data 'complex', but it is easy to sequence when assembling short reads.
- icholy 3y agoIt provides a complete baseline/reference DNA "map". Common "problems" show up on specific parts of this map. So you can sequence small subsets of a patient's DNA and compare it to these "problem areas" to detect genetic diseases.