Stephanie M Yan

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: This article used a graph-based method to genotype long-read-discovered structural variants (SVs) in short-read data from diverse human genomes and applied an admixture-aware method to identify 220 SVs exhibiting extreme patterns of frequency differentiation -a signature of local adaptation.

TL;DR: The T2T-CHM13 reference genome universally improves the analysis of human genetic variation and eliminates tens of thousands of spurious variants per sample, including up to 12-fold reduction of false positives in 269 medically relevant genes.

TL;DR: Differences in gene expression are thought to account for most phenotypic differences within and between species, and gene expression is a powerful lens through which to study divergence between modern humans and the authors' closest evolutionary relatives, the Neanderthals and Denisovans.

TL;DR: The LD-informed preimplantation genetic testing for aneuploidy (LD-PGTA) as mentioned in this paper was proposed to distinguish between meiosis I and meiosis II errors based on signatures spanning the centromeres.