1 Feb 2023 PAINT Conference Call

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Marc, Dustin, Anushya, Paul, Huaiyu, Pascale


PANTHER17 release update

  • PANTHER17 was released. See minutes in the November PAINT call.
  • A bug was identified in December that missed some forward track of IBDs. As a result, the number of lost IBAs will decrease once the bug is fixed.
    • Only affects IBDs that were not forward-tracked via PTN and instead tracked to a descendant node. More specifically, these IBDs that were supported by multiple evidence genes were missed due to a buggy redundancy check.
    • 1132 affected families
    • 4184 distinct PTN/GO term/qualifier combinations
    • The bug is fixed in the code. Plan is to load these into our test DB then generate IBA test GAFs to get a better idea of how many IBAs will be added.

PAINT paper

We are going to focus our discussion on the new draft of human functionome paper. Here is the link to the draft. https://docs.google.com/document/d/1UHaO-ti3WN7r4zcbZnyRyMYUEhJh-d5NqljTktzLQyg/edit?usp=sharing