Increasing the diagnostic yield with VarSome Clinical

By Tomas Kucera on November, 6 2019

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Tomas Kucera

Head of Strategic Alliances & Channel Partners


Although NGS technology is increasingly available in clinical settings, the main challenge remains the interpretation of sequencing data, especially when it comes to larger data sets, such as exomes and genomes. The MedSeq Project examined the effort needed to reanalyze genomes 6–23 months after the initial analysis and how often new findings were revealed [1]. Over the course of the MedSeq study, 14 variants were reclassified and, upon reanalysis, 18 new variants met criteria for reporting. According to Yska et al [2], the percentage of patients who were genetically diagnosed for primary immunodeficiencies using NGS and array-based methodologies was as low as 15%. These findings highlight the need for periodic reinterpretation and reanalysis of sequencing data for both diagnostic indications and secondary findings.

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