Our Software

We develop software tools for genomics

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DeepMod

Detection of DNA 5mC/6mA methylation by Oxford Nanopore sequencing data.

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EHR-Phenolyzer

Natural language processing on Electronic Health Records for genetic diagnosis.

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RepeatHMM

Microsatellite repeat quantification from long-read sequencing data.

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InterVar

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.

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wInterVar

wInterVar: a web server for clinical interpretation of non-synonymous variants by InterVar.

Phenolyzer

Phenolyzer

Phenotype/disease specific gene prioritization and gene network visualization.

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wANNOVAR

wANNOVAR (web ANNOVAR) is a web application for annotating and prioritizing genetic variants in genome/exome sequencing data with optional disease phenotypes.

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PennCNV

Detection of copy number variations (CNVs) from various types of SNP arrays.

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ANNOVAR

Functional annotation of genetic variants from high-throughput sequencing data.