How VarSeq Supports Inherited Trait Discovery & Carrier Screening

· Rana Smalling · About Golden Helix, Clinical Genetics, Personal Genomics, Prenatal


As we gather around the table this season, many of us reflect on family and where we come from, what connects us, and what we pass on. In the field of genetics, these same concepts are explored through the study of inheritance and carrier screening. NGS analysis tools, such as VarSeq, enable users to transition from raw genomic data to meaningful insights that help explain why certain traits or health conditions are inherited within families, or to assist new couples in planning with confidence.

Why These Tests Matter

Just like traditions, stories, and recipes, our genetic information is something we inherit and pass along. Understanding that inheritance can be empowering. Family-based analyses can:

• Reveal why certain traits or conditions appear in multiple relatives

• Provide clarity for families with a history of genetic disease

• Help new couples understand potential reproductive risks

• Support proactive, informed decisions about health and family planning

Leveraging VarSeq for Family Based Analyses

VarSeq offers intuitive workflows designed for analyzing families of all sizes, from trios to extended pedigrees, and couples carrier screening workflows. These workflow templates help users uncover shared variants, highlight inheritance patterns such as de novo variants, compound heterozygosity between small variants or across small variants and copy number variants, recessive homozygous traits, dominant or X-linked traits.

Figure 1: Example trio analysis workflow.

These workflows help genetics labs to identify findings that may be relevant to inherited conditions on behalf of their clients or reassure couples about what genetic traits, if any, they may pass on to their offspring.

Figure 2: Excerpt from a carrier screening clinical report.


This season reminds us of the importance of family, from grandparents to grandchildren and everyone in between. With VarSeq’s family analysis and carrier screening capabilities, users can explore the genetic stories that connect loved ones and support informed choices for generations to come.
If you’d like to learn more or explore these workflows in practice, our team is always happy to help at [email protected].

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Rana Smalling

About Rana Smalling

Rana Smalling, PhD joined our team as a Field Application Scientist in September of 2021. Rana is a Jamaican native who is passionate about using biomedical research and science communication to bring about better healthcare solutions. She earned a Bachelor’s degree in Biological Sciences from the University of Chicago, a PhD in Biochemistry from the University of Utah and completed postdoctoral research at Vanderbilt University Medical Center. She has used both lab bench and bioinformatics approaches to identify novel regulators and potential biomarkers in cancer and metabolic diseases. Rana enjoys providing support and training to Golden Helix customers. When she is not working, she likes to learn about the medicinal uses of plants, fungi and microbes, and she enjoys road trips, singing and listening to music.

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