Fang Li

PPARgene 2.0 updates the database with new PPAR target genes and improves prediction using language models and ChIP-seq data.

The paper introduces IDKG, a knowledge graph integrating multimodal data to advance infectious disease research, demonstrating its utility in drug repurposing for hMPV infection.

LIQA quantifies isoform expression and detects differential alternative splicing in long-read RNA-seq data, outperforming existing methods in low-coverage and biased read scenarios.

Phen2Gene prioritizes genes based on HPO terms for rare diseases, outperforming existing tools in speed and accuracy for clinical diagnosis.

NanoCaller improves SNP and indel detection in difficult genomic regions using long-read sequencing and haplotype-aware deep learning.

LinkedSV detects mosaic structural variants from linked-read sequencing data, outperforming existing tools and identifying SVs missed by conventional sequencing methods.

This paper develops a single-molecule optical mapping method for quantitative D4Z4 repeat analysis in FSHD, showing concordance with Southern blot and improved haplotype resolution.

NextSV is a meta-caller for structural variants from low-coverage long-read sequencing data, providing sensitive and stringent call sets with balanced performance.