Zhipan Li

The paper introduces DNAscope Hybrid, a pipeline combining short and long-read sequencing for improved variant calling accuracy and efficiency.

The paper introduces and benchmarks DNAscope LongRead and Hybrid pipelines for variant calling on ONT data, showing high accuracy and efficiency in SNP, Indel, and Structural Variant detection.

DNAscope LongRead is a pipeline for germline variant calling from PacBio HiFi reads, achieving high accuracy and efficiency in variant detection.

DNAscope improves small variant calling accuracy and reduces computational cost compared to DNAseq using a machine-learned genotyping model.

The paper evaluates variant calling in difficult genomic regions using short- and long-read sequencing, showing improved performance with new methods and multi-technology approaches.

The paper establishes reference samples with high-coverage whole-genome sequencing to create truth sets for somatic mutation and germline variant detection using NGS technologies.

This study evaluates reproducibility and accuracy of cancer mutation detection using whole-genome and whole-exome sequencing across multiple sequencing centers and bioinformatics pipelines.

The paper identifies mis-annotated multi-nucleotide variants (MNVs) in cancer genomics datasets, showing they lead to incorrect amino acid change predictions and recommends merging SNVs into MNVs for accurate variant annotation.