Amy Wing-Sze Leung

Symphonizing pileup and full-alignment for deep learning-based long-read variant calling

This paper introduces Clair3, a deep learning-based variant caller that combines pile-up and full-alignment methods, achieving faster performance and better accuracy, especially at lower coverage.

Evaluation of Mycobacterium Tuberculosis enrichment in metagenomic samples using ONT adaptive sequencing and amplicon sequencing for identification and variant calling

This study compares Oxford Nanopore adaptive sequencing and PCR amplicon sequencing for detecting Mycobacterium Tuberculosis in metagenomic samples and calls variants, with an open-source analysis framework.

Duet: SNP-Assisted Structural Variant Calling and Phasing Using Oxford Nanopore Sequencing

Duet improves structural variant calling and phasing using low-coverage Oxford Nanopore sequencing data, outperforming existing tools at 8X coverage and maintaining strong performance at higher coverage.

HKG: An open genetic variant database of 205 Hong Kong Cantonese exomes

HKG is a variant database of 205 Hong Kong Cantonese exomes that fills a gap in southern Chinese genetics, showing unique variants and improving variant imputation.

ECNano: A Cost-Effective Workflow for Target Enrichment Sequencing and Accurate Variant Calling on 4,800 Clinically Significant Genes Using a Single MinION Flowcell