Ming Yin Lun

Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon

The paper presents a scalable CNV analysis workflow applied to rare disease cohorts, identifying 39 candidate pathogenic SVs within 2 days using collaborative tools and databases.

Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics

The paper investigates how pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics by altering protein structure and function.

Investigation of a Pathogenic Inversion in UNC13D and Comprehensive Analysis of Chromosomal Inversions Across Diverse Datasets

The paper reports a pathogenic inversion in UNC13D and analyzes chromosomal inversions across multiple datasets to identify their molecular characteristics and implications in genetic diseases.

VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data

VizCNV is a tool for analyzing CNVs and phased BAF from trio genome sequencing data, identifying de novo and inherited CNVs in immunodeficiency cases.

Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions

The paper investigates how different genome references affect inversion detection, showing that T2T-CHM13 and long-read sequencing improve resolution of challenging inversions.

Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures

The paper investigates DUP-TRP/INV-DUP genomic rearrangements in neurodevelopmental disorders, identifying four SV haplotypes and refining template switching points using multiple sequencing technologies.