Our Software

We develop software tools for genomics

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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.

HadoopCNV

We leverage big data framework for detection of structural variants from NGS data.

Phenolyzer

Phenolyzer

Phenotype/disease specific gene prioritization and gene network visualization.

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iCAGES

 Identification of cancer driver genes/variants and optimal drug treatments from sequencing, expression and structural variants data.

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wANNOVAR

wANNOVAR (web ANNOVAR) is a web application for annotating genetic variants with respect to disease phenotypes.

SeqMule Workflow

SeqMule

SeqMule is an automated pipeline to generate variant calls from FASTQ or BAM files, using more than 10 popular alignment and variant calling tools.

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SeqHBase

SeqHBase: A big data toolset for family-based sequencing data analysis.

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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.