We develop software tools for genomics
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.
We leverage big data framework for detection of structural variants from NGS data.
Phenotype/disease specific gene prioritization and gene network visualization.
Identification of cancer driver genes/variants and optimal drug treatments from sequencing, expression and structural variants data.
wANNOVAR (web ANNOVAR) is a web application for annotating genetic variants with respect to disease phenotypes.
SeqMule is an automated pipeline to generate variant calls from FASTQ or BAM files, using more than 10 popular alignment and variant calling tools.