VarSeq 2.5.0: Empowering Family Planning through Carrier Screening Analysis

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About this webinar

October 25, 2023 // 12:00 PM EST

Presented By: Gabe Rudy, VP of Product & Engineering

Over the past 50 years, partners with potential genetic risks have sought advanced genetic testing to guide family planning decisions. Carrier screening is a valuable tool in genetics and reproductive medicine that helps individuals and families make informed choices about family planning and reduce the risk of passing autosomal recessive or X-linked genetic disorders to their children. Several carrier screening panels are available for Next-Generation Sequencing platforms, ranging from those targeting prevalent disorders to expanded ones covering various inherited conditions. Since NGS offers an affordable, high-throughput solution, carrier screening has become a common practice in healthcare systems.

We are excited to announce that VarSeq and VSClinical now support a multi-sample carrier screening workflow. VarSeq 2.5.0 unlocks the ability to:
  • Filter variants between samples and identify genes in which a variant from each partner sample is present.
  • Apply the ACMG Carrier Screening gene panel or generate customized carrier screening panels to include in your analysis.
  • Evaluate partnered samples side-by-side in a single VSClinical evaluation.
  • Generate a combined sample clinical report that includes reproductive risk calculations for the most prevalent autosomal recessive and X-linked diseases.
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