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a-xavier edited this page Apr 14, 2019 · 1 revision

--trio

The --trio option allows TAPES to assign the PS2 criteria, detecting de-novo mutations from offspring in trios with healthy parents.

A few clarifications on --trio :

  • --trio will remove from the final report the "healthy" parents in trios
  • You can use the same sample in different trios (for example in a case of multiple siblings) but you probably should not use an individual as case offspring and also control parent, as it would mean the individual in not a "healthy" parent.
  • In the main report, a new column for each trio will be created using the family ID. The PS2 criteria will be assigned globally if one of the variant is de-novo in any trio in the cohort.

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