
Golden Helix: Pioneering bioinformatics solutions for life science research and translational medicine for 20+ years.
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VarSeq supports carrier screening and prenatal CNV detection in one platform: ACMG-guided carrier classification, partner risk calculation, and aneuploidy detection from NGS.
Exome analysis software for whole exome sequencing (WES). Variant calling, annotation, filtering, trio analysis, ACMG classification, and clinical reporting — from FASTQ to signed report.
Run hereditary cancer testing on panels, exomes, and genomes with VarSeq: ACMG germline classification, integrated CNV detection, and germline reflex in one platform.
Comprehensive long-read sequencing analysis software for PacBio HiFi and Oxford Nanopore. Resolving structural variants, phasing, and base modifications.
In this blog, I’ll go through step by step how to analyze a single exome and generating a list of variants for further study.
VarSeq offers multiple data export options including Text, VCF, a VarSeq annotation file, and most importantly an XLSX (Excel) File.
Copy Number Variation (CNV) is a type of structural variation in which sections of the genome are duplicated or deleted. Although CNV..
Golden Helix has career opportunities and is based in Bozeman, Montana.
The page compares WES and WGS by diagnostic yield, cost, and variant detection, and discusses when each may suit a lab or patient.
Golden Helix is a global leader in clinical genomics software, providing powerful solutions for variant analysis, clinical reporting, and precision medicine to 400+ institutions worldwide.
Golden Helix maintains CE-IVD marking, ISO 13485:2016 certification, and GDPR compliance to meet the rigorous requirements of diagnostic laboratories worldwide.
Golden Helix presents software updates and research at genomics conferences and industry events.
Contact Golden Helix for questions about VarSeq, clinical genomics solutions, and enterprise support. Phone: +1.888.589.4629 | Email: info@goldenhelix.com
The company supports NGS analysis across germline, oncology, prenatal, and pharmacogenomics, from panels to genomes, with on-premises or private cloud deployment.
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