16 Matching Annotations
  1. Jun 2022
    1. As with the ClinVar set, all missense variants from genes without asingle pathogenic variant of any type in ClinVar were removed.

      is this reasonable, is this different from how the tool creators did their accuracy assessments?

    2. the ClinVar 2019 set

      isn’t this basically just predicting pathogenicity based on being in Clinvar? and with 1 star level being considered pathogenic?

    3. Among these, all VUS, variants with a zero-star reviewstatus, i.e., without any detailed review information, and those with conflicting classificationswere excluded

      dodgy labs might mark variant as pathogenic and link to assessment criteria but apply them wrongly. These might be detected if other labs post conflicting assessments. But for ultrarare variants, no other lab might have submitted that variant

    1. An average individual exome has 10,000-12,000non-synonymous variants [13], 120 protein truncating variants, and ~54 variants previouslyreported as pathogenic
    1. yield an AUC >0.80

      does this assume all variant effects are independent of each other, and if so, is that assumption reasonable? Answered below

    2. QUS

      quantitative ultrasound

    3. Another caveat of the PRS is its assumption of additive effects

      answer to my earlier question here

  2. Aug 2020
    1. Last evaluated:

      last evaluated in 2015, but only submitted in 2019, does not make sense

  3. Sep 2019
  4. Jun 2018
  5. Nov 2017