Alaina Shumate

TL;DR: The sequences from deep RNA sequencing experiments by the Genotype-Tissue Expression (GTEx) project are assembled to create a new catalog of human genes and transcripts, called CHESS, revealing a heretofore unappreciated amount of transcriptional noise in human cells.

TL;DR: Liftoff is described, a new genome annotation lift-over tool capable of mapping genes between two assemblies of the same or closely-related species and finds the mapping that maximizes sequence identity while preserving the structure of each exon, transcript, and gene.

TL;DR: The T2T-CHM13 reference as mentioned in this paper contains gapless assemblies for all 22 autosomes plus Chromosome X, corrected numerous errors, and introduced nearly 200 million bp of novel sequence containing 2,226 paralogous gene copies, 115 of which are predicted to be protein coding.

TL;DR: The Human Pangenome Reference Consortium (HPC) as mentioned in this paper was formed with the goal of creating high-quality, cost-effective, diploid genome assemblies for a pangeneome reference that represents human genetic diversity.

TL;DR: The T2T-Y consortium presented the complete 62,460,029 base pair sequence of a human Y chromosome from the HG002 genome (T2T -Y) that corrects multiple errors in GRCh38-Y and adds over 30 million base pairs of sequence to the reference, revealing the complete ampliconic structures of TSPY, DAZ, and RBMY gene families; 41 additional protein-coding genes, mostly from the T SPY family; and an alternating pattern of human satellite 1 and 3 blocks in the heterochromatic Yq12 region as mentioned in this paper .