For decades, the Y chromosome — one of the two human sex chromosomes — has been notoriously challenging for the genomics community to sequence due to the complexity of its structure. Now, this elusive area of the genome has been fully sequenced, a feat that finally completes the set of end-to-end human chromosomes and adds 30 million new bases to the human genome reference, mostly from challenging-to-sequence satellite DNA. These bases reveal 41 additional protein-coding genes, and provide crucial insight for those studying important questions related to reproduction, evolution, and population change.
Researchers from the Telomere-to-Telomere (T2T) consortium, which is co-led by University of California, Santa Cruz Assistant Professor of Biomolecular Engineering Karen Miga, announced this achievement in a paper published Aug. 23 in the journal Nature. The complete, annotated Y chromosome reference is available for use on the UCSC Genome Browser and can be accessed via Github.