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Not called deletion in mtDNA

Open 1ctw opened this issue 1 year ago • 5 comments

There is a mtDNA deletion in case 23103, which is not called in Scout. We have confirmed it with MLPA and also sequenced the breakpoints by sanger sequencing. I recently found mtDNA deletions in two other cases (23102 and 18157) and they are both called.

It would be good if you investigate why the one in 23103 is not called while the others are.

Thanks!

1ctw avatar Jun 09 '23 07:06 1ctw