Scientists have filled in millions of missing pieces of human DNA, yielding the most complete, gapless sequence of the human genome ever produced, bar one tiny chromosome.
"Finally, from tip to tip, telomere to telomere, we have an assembly of the genome we can look at,"It's wild to think there were so many gaps in the human genome as we knew it; millions of missing bases, in fact. But it speaks to the beguiling beauty and sheer complexity of the bucketloads of DNA crammed inside our cells, encoding every intimate detail of life.
"But there were many important aspects that lay hidden, out of view of science, because we did not have the technology to read those portions of the genome."Scientists first mapped the human genome decades ago by piecing together and overlaying 'short reads' of DNA that captured only several hundred bases at a time. Then, long-read sequencing enabled them to make sense of previously 'unreadable' repetitive chunks of DNA that had long defied research.
The new 'gapless' genome, which now totals over 3 billion bases, could also shed light on how pairs of chromosomes get pulled apart and divide without a hitch, the mechanics of so-called jumping genes that hop around the genome, and the perhaps-crucial role of long stretches of duplicative DNA. evolutionary biologist Rajiv McCoy of Johns Hopkins University. But he adds,"there's an aspect of this that's like, we don't know yet what we don't know".Rather than being a mosaic of sequences collated from multiple individuals, the newly-minted reference genome was put together using a special type of cell line that has two identical copies of each chromosome .
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