JAMA Network May 24, 2022
Nearly 2 decades after the Human Genome Project concluded its work, scientists announced that they have sequenced the estimated 8% of the genome that remained unresolved. A set of 6 papers published April 1 in Science describe the gaps in the genome that now are filled.
The Telomere to Telomere (T2T) Consortium, composed of researchers from several institutions—including the National Human Genome Research Institute (NHGRI)—conducted the work. Advancements in DNA sequencing technology and affordability were essential factors that enabled sequencing of the remaining genomic regions.
As discussed in one of the Science articles from April, the sequence is about 3 billion DNA base pairs long across 22 autosomes and the X chromosome; additional research is necessary to finish sequencing the...
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