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acostauribe authored Oct 15, 2021
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**2. Principal Component Analysis (PCA)**

For PCA, we used the subset of unrelated samples and performed LD-pruning using PLINK to exclude variants with an r2 value of greater than 0.2 with any other SNP within a 50-SNP sliding window, advancing by 10 SNPs each time. Then, we performed a PCA using the smartpca package from EIGENSOFT(v7.2.1) [https://github.com/DReichLab/EIG/archive/v7.2.1.tar.gz]. You can open the script [PCA_with_MAF_restrictions.sh](PCA_with_MAF_restrictions.sh) in any text editor and set the minor allele frequency (MAF) thresholds you want for your analyses.

```
chmod u+x PCA_with_MAF_restrictions.sh
```
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Since we have multiple related individuals, we used the parameters –duohmm and a window of 5MB (-W 5), which takes advantage of the inclusion of families, pedigree structure and the large amount of IBD shared by close relatives, leading to increased accuracy.

Here is a markdown of Phasing with Shapeit2
Here is a markdown of Phasing with Shapeit2
[Phasing Tutorial](Phasing.md)


**5. Identification of Identitical by Descent (IBD) segments using Hap-IBD**

If any of the disease-conferring or risk-associated variants were shared by two or more unrelated individuals, we used hap-IBD v1.0 to search for identity by descent (IBD) around the locus. This software detects IBD of 2cM and highers. Hap-IBD can also detect Autozygosity (homozygosity by descent). [https://github.com/browning-lab/hap-ibd]()

Here is a markdown of detecting IBD with Hap-IBD
[Run_Hap-IBD.md](Run_Hap-IBD.md)
Here is a markdown of detecting IBD with Hap-IBD
[Run_Hap-IBD.md](Run_Hap-IBD.md)


And a series of Python scripts to plot overlapping IBD segments over a locus of interest

**6. Local ancestry inference using RFMix**

We implemented protocols similar to those previously developed for ancestry estimation in admixed populations. \
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