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variant filtration criteria
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2.8 years ago
ED • 10

Hello

I'm reading a paper and in this paper they exclude variants which are clustered in >10% of the individuals. And I was wondering why they exclude these variants? Is it because when a variant is clusterd with an other variant, you're not sure which variant causes the phenotype you're investigating?

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In cases like this, citing the paper is the best way to understand the circumstances

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As far as I know a cluster of variants is a genomic location in which more variants than expected by random chance are found, and therefore suggestive of an artefact and as such false positive variants.

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If the number of samples is big and it includes different normal and abnormal samples from a big number of populations (ethnicities) or mixtures, then if mutations cluster in >10% then it is likely to be an artifact or at least can not be causing the abnormality. Anyway, by providing us that paper we will be able clarify the story for you much better. Thank you.

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