shishenyxx / DeepMosaic

DeepMosaic is a deep-learning-based mosaic single nucleotide classification tool without the need of matched control information.

Home Page:https://www.nature.com/articles/s41587-022-01559-w

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Condition for "extra_mosaic_filters"

duct317 opened this issue · comments

Hi,
I was looking at the prediction code and noticed the condition for extra_mosaic_filters filter here:

extra_mosaic_filters = (depth_fractions >= 0.6) & (depth_fractions <= 1.7) & (segdups == 0) & (all_repeats == 0) &\
(gnomads < 0.001) & (lower_CIs >= 0.5) & (upper_CIs < 0.5)

Shouldn’t the condition (lower_CIs >= 0.5) & (upper_CIs < 0.5) always evaluate to false? It seems contradictory since the lower bound of the confidence interval (CI) should not be greater than the upper bound.

Thank you,
Duc

Thank you for picking up the bug, Duc!

Should be upper_CIs >= 0.5 and lower_CIs < 0.5

This line was only used for the x-y pseudo autosomal regions (0.00087 of the genome) it won't affect the majority of the predictions. I fixed that and will release a new version.

Best,

Xiaoxu

Thank you for the reply.

Duc