2022 First Place Innovation Award Winner: Ammar Husami

Human Whole Genome Sequencing –Searching for the De Novo Variants in Rare Disease

Presented By: Ammar Husami, Senior Bioinformatics Analyst, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA

VarSeq is a powerful tool that makes it easy for biologist, geneticist, researchers, bioinformaticist to filter and narrow down from thousands of variants to few based on filtering cascade and information tracks. I will present my experience of VarSeq in the context of exploring de novo pathologic variations in human genomes associated with congenital anomalies. The discovery of de novo variant doesn’t mean pathologic. It requires experimental evidence determine the molecular function and mechanism of the mutation in the context of the disease. Watch below as Ammar discusses how to find the needle in the haystack.

Watch on demand

Please enjoy this webcast recording. Should you have any questions about the content covered, please reach out to our team here.

Popular Products

SNP & Variation Suite

SNP & Variation Suite is a powerful analytic tool that allows biologists and other researchers to easily perform complex analyses and visualizations on genomic and phenotypic data.

  • GWAS & SNP Analysis
  • Large-N DNA-Seq Analysis
  • Genomic Prediction
  • Copy Number Analysis
  • RNA-Seq Analysis

Learn More


VarSeq is an intuitive, integrated software solution for tertiary analysis. With VarSeq you can automate your workflows and analyze variants for gene panels, exomes, and whole genomes.

Learn More


Built on the same algorithms of Varseq, VSWarehouse is a scalable, multi-project warehouse for NGS variant call sets, clinical reports, and catalogs of variant assessments.

  • Fully Integrated with VarSeq Workflows
  • Scalable Technology
  • Organize Samples into Projects
  • Centralized Clinical Report Hosting
  • Create Variant Assessment Catalogs

Learn More

Love this webcast? Check out more!

Find out how Golden Helix software enables users to harness the full potential of genomics to identify the cause of disease, improve the efficacy and safety of drugs, develop genomic diagnostics, and advance the quest for personalized medicine.