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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. | ||
config: afd4f162f81866546b34bf43a60ac9dd | ||
config: 895eb4b97f76d81dda11c2de7331f3e9 | ||
tags: 645f666f9bcd5a90fca523b33c5a78b7 |
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relatedness calculations | ||
======================== | ||
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Using cyvcf2, we can quickly calculate relatedness using the method | ||
described in http://www.nature.com/ng/journal/v42/n7/full/ng.608.html in | ||
equation 6. | ||
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This is computationally intensive to calculate for the entire genome | ||
and other methods, such as KING (http://www.ncbi.nlm.nih.gov/pubmed/20926424) | ||
have fast methods to do this on the entire genome. | ||
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The limitations of these methods is that they assume the average pair of samples | ||
is unrelated. | ||
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In `pedagree`, we use about 5,000 variants described in http://www.nature.com/nature/journal/v506/n7487/full/nature12975.html | ||
that are known to be targeted by most exome platforms, in hardy weinberg equilibrium in 1000 genomes, | ||
and mostly unlinked. | ||
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When a user requests to calculate relatedness, we use those 5K sites and | ||
the genotypes from the 2504 1KG samples to provide a background of samples so | ||
that most samples are indeed unrelated. Since we are sampling on 5K sites, | ||
the calculations are quite fast (~5 minutes) and match very well what | ||
we get from a whole-genome scan because of the properties of those sites. | ||
Though we use the additional 2504 1KG samples internally, only the information | ||
from the ped/vcf file is returned. | ||
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`pedagree` stores the relationships from the pedigree in a graph and can calculate | ||
the expected coefficient of relation from what is specified in the ped file. | ||
We can use this information to compare to what is calculated from the genotypes. | ||
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sex QC | ||
------ | ||
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