Ming Xiao

The function of human PIF1 in G quadruplex formation and replication stress response at ALT telomeres

This study investigates the role of human PIF1 in ALT telomere maintenance, showing its involvement in DNA damage, G4 formation, and replication stress response, with implications for cancer therapy.

DNA2 and FANCM function in two distinctive pathways in disrupting TERRA R-loops and suppressing replication stress at ALT telomeres

This study shows DNA2 and FANCM function in distinct pathways to suppress replication stress at ALT telomeres, with their combined depletion causing synthetic lethality in ALT+ cancers.

Elucidation of the molecular mechanism of the breakage-fusion-bridge (BFB) cycle using a CRISPR-dCas9 cellular model

This study uses a CRISPR-dCas9 model to investigate the BFB cycle, revealing increased DNA damage, chromosome fusions, and involvement of DNA repair pathways in ITCB formation.

Linked-Pair Long-Read Sequencing Strategy for Targeted Resequencing and Enrichment

The paper introduces a linked-pair long-read sequencing strategy for targeted resequencing, enabling efficient enrichment of genomic regions with haplotype information.

Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping

The paper uses optical mapping to analyze subtelomere structure and variation across 154 human genomes, identifying novel haplotypes and population-specific trends.

The 22q11 low copy repeats are characterized by unprecedented size and structure variability

The paper characterizes the structural variability of 22q11 low copy repeats (LCRs) using optical and Bionano mapping, revealing high haplotype diversity and population-specific differences.

Evaluating the quality of the 1000 Genomes Project data

The paper assesses the quality of the 1000 Genomes Project data by comparing phased haplotypes with experimental data and finds that rare variant phasing and imputation are unreliable due to limited sample size.

Multi-platform discovery of haplotype-resolved structural variation in human genomes

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.

OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps

OMSV identifies large structural variations from optical maps with high accuracy, outperforming existing methods and detecting many missed by sequencing.