We are passionate about creating bioinformatic solutions that target hard-to-detect variants such as MNVs, Alu elements and mid-sized deletions.
These challenging variants are important because research continues to discover ways in which they impact patient health. Our custom bioinformatic modules complement the industry-standard bioinformatic tools, making it possible to detect important variants that would otherwise be undetected.
SeqOne regularly publishes and shares many of its research results via the open source community.
Save time with SeqOne DiagAI industry leading AI-assisted interpretation* SeqOne DiagAI accuracy & sensitivity has been validated on 1000+ Whole Exomes. Variant ranking, shortlisting, suggestion, pathogenicity prediction, automated HPO extraction.
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somaHRD bioinformatic pipeline is clinically validated against the PAOLA-1 cohort, with 96% concordance with Myriad MyChoiceTM ensuring reliable and accurate results.Achieve rapid HRD status determination from sWGS, with integrated HRD & BRCA combined reporting.
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