UPDATED 22 Dec 2021 and 22 Jan 2022
With the release in April 2021 of the first
Telomere to Telomere project (T2T) results, we saw the first high-reliability, long-read scan method used to assemble and build a model of a true COMPLETE
chromosome (the
X). No more gaps; no more N's in the model. Which is very exciting for researchers in the field. The
Telomere to Telomere work is in collaboration with the
pan-genome project. But is this excitement warranted for the casual
WGS consumer at this time? Maybe not quite yet.
UPDATE: Some in the
Y chromosome phylogenetic tree community discovered in December a check-in made in November of a nearly final draft of the
Allosome part of another sample (HG002). Which has led to a gold-rush mentality among competitors in that community to be the first to discover new variants in the
Y chromosome and explore the over 50% that is "missing" in the latest analysis models. But the same issues of waiting apply; even with the supposed final v2.7 posted in mid-January that was then added to a new v2 check-in of the v1.1 T2T model that was missing the
Y.