Thursday, March 31, 2022

Reference Human Genome Almost Complete


Work remains to finalize the reference genome (the Y chromosome still needs to be finished) but researchers are close to finally sequencing every last nucleotide of human DNA.

Ever since the launch of the Human Genome Project more than 30 years ago, genetic sequencing technologies and data-processing pipelines have been getting faster, cheaper and more precise, allowing researchers to sample, sequence and compare more genomes with every passing year.

But huge chunks of DNA – amounting to around 8 percent of the human genome – were still missing from the most recent reference sequence that scientists use as a template to assemble newly-sequenced DNA samples.

Now, scientists have pieced together those parts of the human genome which have long been 'unsequenceable' to assemble the most complete reference genome to date, sharing their findings in a collection of six papers, published in the journal Science.

Read more here and here.

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