In recent years, the field of population genomics emerged, studying the genomic characteristics of an entire population better to understand issues regarding evolution, migration, and health. Researchers can identify genetic variants associated with particular traits or diseases by sequencing the genomes of large numbers of people. Also, this information can develop new methods for diagnosing and treating illnesses.
As whole genome sequencing (WGS) becomes less expensive and more accessible analysis methods are becoming available, we have shifted from looking at discreet biomarkers to large-scale sequencing approaches. In addition, our understanding of intronic variants and regions, such as Topologically Associating Domains (TAD), leads to an increased interest in WGS.
Golden Helix has extensive experience building scalable analytics capabilities that allow national genome centers to build out powerful capabilities to support the work of hundreds of researchers and clinicians.
Maximizing Profitability in Your NGS Testing Lab
Learn how to develop repeatable cacner and germline interpretation workflows that scale from panels to whole exomes and genomes.
We know our software will exceed your expectations. But don't just take it from us, see what our customers have benefitted from it.
Dr. med. Konstanze Hörtnagel
Specializing in hereditary diseases including inherited cancers as well as non-hereditary solid-tumors, MVZ Martsried implemented Golden Helix to make NGS gene testing and variant discovery efficient, scalable and accessible by converting NGS data output into customized clinical reports in a timely manner.Read Dr. Hörtnagel's Entire Case Study
By utilizing bioinformatics software solutions from Golden Helix, Ben Lundie and his team at Pathology Queensland provide a state-wide comprehensive diagnostic pathology service.Read Lundie's Entire Case Study
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Recommended Learning Materials
We have a variety of supplemental learning materials that are an excellent resource for anyone interested in the industry or our software solutions. Here are some of our recommended materials for you to check out related to VarSeq!
Check out our free eBooks on a variety of different topics:
Watch an informative webcast featuring VarSeq in action!
- End to end solution for clinical labs
- An exploration of clinical workflows
- CNV Analysis in VarSeq
- Identifying genetic variant