Running Mixture Deconvolution
Running_MixDecon.RmdMixture deconvolution utilizes EuroForMix (EFM).
There are several options/settings to run EFM mixture
deconvolution:
The type of mixture deconvolution analysis to perform (one or both can
be selected at once):
- Unconditioned analysis
- Conditioned analysis
Allele Frequency Data: The user must choose which
allele frequency data to use: 1000Genomes Phase 3 data, gnomAD v4 data,
or upload a custom file. See above for more details about the format for
uploading a custom AF file.
References to Condition on: IF running a conditioned
analysis, once the reference folder has been uploaded, this dropdown
menu will auto-populate containing the reference sample IDs. The user
must select which references to condition on. As of now, MixDeR
can only condition on a single reference sample. However,
multiple references can be selected for conditioning; the conditioned
analyses will be run separately.
Number of SNP Bins: The number of SNP sets for each
sample. The default is 10.
Static Analytical Threshold: The minimum number of
reads required for a SNP to be included (default = 10).
Dynamic Analytical Threshold: The percent of total SNP
reads required for a SNP to. be included (default = 0.015 or 1.5%). (A
quick note on the ATs: both the static and dynamic ATs are applied and
the one producing the higher AT will be used in the EFM software).
Output Folder Name: The name of the folder created
within the folder containing the original SNP files to store the
generated output for the entire workflow.
Minimum Number of SNPs: The minimum number of SNPs