We develop software tools for genomics
Detection of DNA 5mC/6mA methylation by Oxford Nanopore sequencing data.
Natural language processing on Electronic Health Records for genetic diagnosis.
Microsatellite repeat quantification from long-read sequencing data.
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.
wInterVar: a web server for clinical interpretation of non-synonymous variants by InterVar.
Phenotype/disease specific gene prioritization and gene network visualization.
wANNOVAR (web ANNOVAR) is a web application for annotating and prioritizing genetic variants in genome/exome sequencing data with optional disease phenotypes.
Detection of copy number variations (CNVs) from various types of SNP arrays.
Functional annotation of genetic variants from high-throughput sequencing data.