Xian Fan

Methods for Copy Number Aberration Detection from Single-cell DNA Sequencing Data

This paper reviews and benchmarks methods for detecting copy number aberrations in single-cell DNA sequencing data, highlighting their strengths, limitations, and accuracy.

A robust benchmark for germline structural variant detection

Genome in a Bottle benchmark of 12745 sequence-resolved insertions and deletions of 50 bp or more, integrating 19 calling methods, scores false negatives and false positives alike.

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.

Detecting Large Indels Using Optical Map Data

OMIndel detects large indels using optical map data, outperforming existing tools by reducing false discoveries and identifying indels missed by other technologies.

HySA: A Hybrid Structural variant Assembly approach using next generation and single-molecule sequencing technologies

HySA improves structural variant detection by integrating NGS and SMS data, enhancing accuracy for specific SV types with low false discovery rate.