White paper

Efficient genomic variant prioritization with SeqOneRank+ 

Prioritize variants easily and efficiently with SeqOneRank+ miniature white paper

Supporting WES/WGS based clinical diagnosis with a variant-prioritization AI engine

SeqOneRank+ is a variant-prioritization engine available on the SeqOne SaaS Platform to support clinical diagnosis of rare diseases based on WES and WG sequencing.

SeqOneRank+ integrates 2 layers of information to prioritize variants :

  • Molecular information such as ACMG criteria in order to classify variants according to the 5 ACMG classes.
  • Clinical information such as phenotypes provided as HPO terms in order to upweight the genes associated with the provided phenotypes.

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