Zechen Chong

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 shows PRMT1 promotes leukemogenesis by enhancing glycolysis and reducing fatty acid oxidation in AMKL cells.

The paper introduces NAHRwhals, a method to detect serial structural variations in long-read genomes, identifies 37 sSV loci in humans, and shows their relevance to disease.

This study shows that Bmal1 in vascular smooth muscle cells promotes vascular calcification under diabetic conditions, independent of the canonical circadian pathway.

This review summarizes the genetic basis of hydrocephalus, including genes, pathways, and mechanisms, to highlight the complexity and global impact of its genetic contributions.

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

novoRNABreak detects novel splice junctions and fusion transcripts in cancer RNA-seq data with high sensitivity and efficiency.

The paper presents a high coverage whole genome sequencing resource of 3,202 samples, including 602 trios, generated from the expanded 1000 Genomes Project.

Mako detects complex structural variants using a graph-based pattern growth approach, achieving 70% validation rate on real data and identifying 15 CSV types including two novel ones.

The paper presents 64 haplotype-resolved human genomes using long-read sequencing and identifies structural variants, SV-eQTLs, and adaptive selection candidates.

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.

The paper benchmarks somatic structural variant detection methods using synthetic tumors and crowd-sourced submissions, finding that ensembles do not always outperform individual methods.

The paper analyzes somatic retrotransposition events in 2,954 cancer genomes, identifying L1 insertions as significant contributors to structural variations and oncogenesis.

This study develops MRLR, a tool to identify meiotic recombination events in individual human genomes using linked-read sequencing and trio pedigree data, identifying 462 high-resolution MR events.