Illumina / Pelops

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Recurrent error in data #2

Open Chunkz616 opened 1 month ago

Chunkz616 commented 1 month ago
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There is a recurrent rearrangement found in all my calls for the DUX4 unknown partner. Is this a known false positive or am I misunderstanding something? Has this been found before?

martimij commented 1 month ago

This region on chr2 is repetitive (short tandem repeats), so any reads mapping there are less reliable. If this is a recurrent call found in 2+ unrelated samples, then it's safe to assume it's a false positive. We recommend creating a blacklist of recurrent false positives and feeding that to Pelops, as described in the documentation.

Chunkz616 commented 1 month ago

Thank you, this makes sense