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I am using MSMC over genomes sequenced by Complete Genomics. Based on the Schiffels & Durbin 2014 paper, unphased sites would introduce bias for population split analysis. However, when I looked into run_shapeit.sh tool, it seems that phasing was performed only on SNVs present in shapeit2 reference panel. Afterwards, both phased and unphased sites were merged into the same vcf file.
My question is, should I keep the unphased sites (those not present in the reference phasing panel) in my vcf file? If not, should I somehow fix the mask file to reflect the fact that only sites present in the reference panel are callable?
Thanks very much for your suggestions,
Hao Hu
The text was updated successfully, but these errors were encountered:
I am using MSMC over genomes sequenced by Complete Genomics. Based on the Schiffels & Durbin 2014 paper, unphased sites would introduce bias for population split analysis. However, when I looked into run_shapeit.sh tool, it seems that phasing was performed only on SNVs present in shapeit2 reference panel. Afterwards, both phased and unphased sites were merged into the same vcf file.
My question is, should I keep the unphased sites (those not present in the reference phasing panel) in my vcf file? If not, should I somehow fix the mask file to reflect the fact that only sites present in the reference panel are callable?
Thanks very much for your suggestions,
Hao Hu
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I am using MSMC over genomes sequenced by Complete Genomics. Based on the Schiffels & Durbin 2014 paper, unphased sites would introduce bias for population split analysis. However, when I looked into run_shapeit.sh tool, it seems that phasing was performed only on SNVs present in shapeit2 reference panel. Afterwards, both phased and unphased sites were merged into the same vcf file.
My question is, should I keep the unphased sites (those not present in the reference phasing panel) in my vcf file? If not, should I somehow fix the mask file to reflect the fact that only sites present in the reference panel are callable?
Thanks very much for your suggestions,
Hao Hu
The text was updated successfully, but these errors were encountered: