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Sex Test Workflow

Rakeiora


This workflow, commensurate with its author's knowledge of human biology, addresses a burning question:

Did a given genomic sample come from a male or female participant?


Previous research (citation required) has demonstrated that when we request positions 20,000,000-30,000,000 of Chromosome Y, we find a BAM file of approximately 70MB from males, while a female's BAM file of the same region yields a file smaller than 10MB.

So if we request this region from each sample (use the bed file provided, y_20M_30M.bed, or its multi-region version), we can test the resulting size (we use 30MB as a threshold) and determine the sex of the participant from whom the sample came.

When the workflow is run on multiple samples, a summary report is produced.

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Determination of gender from a BAM file

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