Jinchen Li

This study analyzes the intratumoral microbiome in DFSP using WGS data and finds negative correlations between microbial diversity and tumor malignancy markers like Ki67 expression.

ERVcancer provides a database to query activation of human endogenous retroviruses across cancer types using RNA-seq data from multiple sources.

The paper introduces SEAD, an Asian reference panel that improves rare variant imputation and GWAS analysis, identifying a novel association between SNTG1 and hip BMD.

The paper introduces ccsmeth, a deep-learning method for detecting DNA 5mCpGs using PacBio CCS, achieving high accuracy and AUC, and presents ccsmethphase for haplotype-aware methylation detection.

The paper evaluates 24 computational methods for predicting non-coding variant function and pathogenicity across four benchmark datasets, finding varying performance across different variant types.

The paper presents genomic analyses of 10,376 Chinese individuals, identifying novel genetic variations and providing a reference haplotype map, along with an imputation server for improved accuracy.

AsCRISPR is a web tool for designing allele-specific gRNAs to target mutant alleles or SNPs while preserving normal alleles, with evaluations of on-target efficiency and off-target potential.

The paper identifies de novo mutations affecting post-transcriptional regulation that contribute to four neuropsychiatric disorders.

This paper introduces a statistical framework to identify risk genes from de novo mutations in whole-genome sequencing studies, finding new autism risk genes.