Yuwei Song

The paper assembles and characterizes 2,110 human centromeres, revealing novel haplotypes, mobile element insertions, and mutation rate variation across chromosomes.

VDJcraft is a pipeline for analyzing V(D)J recombination from long-read transcriptome data, showing improved accuracy and novel gene subclass discovery.

The paper characterizes the evolutionary origin and expression of MAEL in the developing human brain and finds reduced MAEL expression in hydrocephalus brain tissue.

Hybrid HiFi/ultra-long ONT assemblies of 65 diverse humans yield 130 haplotypes, 1,246 complete centromeres, and a pangenome panel enabling short-read genome inference at median QV 45.

This study uses endoluminal tissue sampling to analyze genetic and transcriptional features of vein of Galen malformation endothelial cells.