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# Makefile for Sphinx documentation | ||
# | ||
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# Sphinx build info version 1 | ||
# This file hashes the configuration used when building these files. When it is not found, a full rebuild will be done. | ||
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manipulation, validation and exploration of pedigrees | ||
===================================================== | ||
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Pedagree is a python module for manipulating pedigree files. | ||
While the python module has sever useful features, | ||
most users will be intereseted in `pedagree` for its | ||
utility in finding discrepancies between the relationships specified | ||
in `.ped` files and the relationships inferred from a | ||
corresponding `.vcf` file such as can occur from sample-swaps | ||
or pedigree misspecifications. | ||
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The code to do this is quite simple. Below, we check for pedigree | ||
violations by looking at 5,000 sites (see docs for more details on selection) | ||
and for sex discrepancies by looking at the non-PA regions of the X | ||
chromosome where males should have very few HET calls. | ||
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.. code-block:: python | ||
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from pedagree import Ped | ||
p = Ped('ceph1463.ped') | ||
ped_df = p.ped_check('ceph1463.vcf.gz', plot='ped-check.png') | ||
sex_df = p.sex_check('ceph1463.vcf.gz', plot='sex-check.png', cutoff=0.15) | ||
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This will create the images: | ||
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.. image:: _static/ped-check.png | ||
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where samples are placed in the plot according to their relationship inferred from | ||
the genotypes in the VCF and colored by their expected relationship from the PED file. | ||
Parent-child relations (which should have IBS0 of 0) have an outline to differentiate | ||
them from sib-sib relations. | ||
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and | ||
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.. image:: _static/sex-check.png | ||
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From both of these cases, we can see that it doesn't look like there are any | ||
sample mixups. See the docs here for an example of how a sample mixup appears. | ||
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Both of these commands also create pandas dataframes that can be saved to a file with: | ||
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.. code-block:: python | ||
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ped_df.to_csv('ped-check.tsv', sep="\t", index=False) | ||
sex_df.to_csv('sex-check.tsv', sep="\t", index=False) | ||
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The `sex-check` file will look like:: | ||
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error het_count het_ratio hom_alt_count hom_ref_count ped_sex predicted_sex sample | ||
FALSE 27056 0.1263089096893163 86640 127565 male male NA12877 | ||
FALSE 103578 0.7371260212360158 48197 92319 female female NA12878 | ||
FALSE 99578 0.7035623949015785 50029 91505 female female NA12879 | ||
FALSE 98933 0.6946225083727102 51852 90575 female female NA12880 | ||
FALSE 97733 0.6820833856762001 51843 91443 female female NA12881 | ||
FALSE 25568 0.11903775333001225 85114 129675 male male NA12882 | ||
FALSE 25740 0.12030398489423158 82830 131128 male male NA12883 | ||
FALSE 26380 0.12349609100697533 84861 128749 male male NA12884 | ||
FALSE 98882 0.68974609375 51608 91752 female female NA12885 | ||
FALSE 27341 0.12795900219965367 85473 128197 male male NA12886 | ||
FALSE 101838 0.7297442548709092 49321 90232 female female NA12887 | ||
FALSE 24317 0.11512477334381199 84141 127082 male male NA12888 | ||
FALSE 28980 0.13943418013856812 79538 128302 male male NA12889 | ||
FALSE 100617 0.7108129874533741 48475 93077 female female NA12890 | ||
FALSE 24443 0.11661792279543319 83839 125760 male male NA12891 | ||
FALSE 100453 0.7119832162677459 47684 93405 female female NA12892 | ||
FALSE 24774 0.11745685567987862 84482 126438 male male NA12893 | ||
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And we can see that there are no inferred errors along with other information used to make that inference. | ||
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The `ped-check` file will contain `n_samples` \* `n_samples` number of rows like below:: | ||
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ibs0 ibs2 ibs2* n rel sample_a sample_b pedigree_distance pedigree_parents predicted_parents parent_error | ||
0.0801 0.0042 0.0165 4722 0.0245 NA12877 NA12878 0.0000 False False False | ||
0.0000 0.0125 0.0360 4723 0.5401 NA12877 NA12879 0.5000 True True False | ||
0.0000 0.0108 0.0390 4723 0.5482 NA12877 NA12880 0.5000 True True False | ||
0.0000 0.0119 0.0407 4723 0.5770 NA12877 NA12881 0.5000 True True False | ||
0.0000 0.0108 0.0351 4723 0.5448 NA12877 NA12882 0.5000 True True False | ||
0.0000 0.0112 0.0392 4723 0.5438 NA12877 NA12883 0.5000 True True False | ||
0.0000 0.0114 0.0379 4723 0.5452 NA12877 NA12884 0.5000 True True False | ||
0.0000 0.0110 0.0358 4723 0.5341 NA12877 NA12885 0.5000 True True False | ||
0.0000 0.0114 0.0390 4723 0.5597 NA12877 NA12886 0.5000 True True False | ||
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Using `IBS0`, we can infer the parent-child relationship of a pair of samples. If the inferred value | ||
doesn't match the relationship in the ped file, then the `parent_error` column will be `True`. | ||
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.. | ||
.. toctree:: | ||
:maxdepth: 2 | ||
.. | ||
Indices and tables | ||
================== | ||
.. | ||
* :ref:`genindex` | ||
* :ref:`modindex` | ||
* :ref:`search` | ||
|
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