brentp / somalier

fast sample-swap and relatedness checks on BAMs/CRAMs/VCFs/GVCFs... "like damn that is one smart wine guy"

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Correlating the TSV columns with HTML

SHuang-Broad opened this issue · comments

Hi Brent,

I have a simple question regarding sex QC.

Using a 30X CCS BAM for HG00514 (unfortunately, it's named as UnnamedSample in the bam...), I got the following TSV from somalier relate

#family_id sample_id paternal_id maternal_id sex phenotype original_pedigree_sex gt_depth_mean gt_depth_sd depth_mean depth_sd ab_mean ab_std n_hom_ref n_het n_hom_alt n_unknown p_middling_ab X_depth_mean X_n X_hom_ref X_het X_hom_alt Y_depth_mean Y_n
chs UnnamedSample 0 0 2 0 female 26.6 10.9 26.5 11.0 0.51 0.43 4964 3826 61222472 0.010 24.57 324 115 74 135 0.00 0  

In the HTML, here's the entry

var sample_data = [{"sample":"UnnamedSample","sex":"female","gt_depth_mean":26.56822516326648,"depth_mean":26.47785319834331,"ab_mean":0.5111052337888106,"pct_other_alleles":0.06902285407784831,"n_hom_ref":4964,"n_het":3826,"n_hom_alt":6122,"n_unknown":2472,"n_known":14912,"p_middling_ab":0.009966398997665014,"x_depth_mean":1.8498845085106,"x_hom_ref":115,"x_het":74,"x_hom_alt":135,"y_depth_mean":0.0}]

I'm curious how x_depth_mean is derived from the TSV entries (if it is indeed derived from there).

Thanks!

Steve

Hi Steve,
in the html, the x_depth_mean is normalized to try to get females to ~2 and males to ~1. It uses this:

      "x_depth_mean": 2 * stats[i].x_dp.mean / stats[i].gtdp.mean,

where gtdp is the mean depth of genotyped sites in the autosome.

I think your columns must be off in the TSV table, probably n_unknown was combined with n_hom_alt . So then your tsv X_depth_mean would be 24.57

Ah, yes, you are right.
Sorry for this mistake and thanks for being patient with me.

Thank you!

no problem! glad you figured it out.