Associated Papers
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families.
Du H et al.
Genome Medicine, 2025
Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon.
Lun MY et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data.
Du H et al.
Biorxiv : the Preprint Server for Biology, 2024
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