Thank you so much! How could I check that?
Hello everyone,
So I used BWA to align Read 1 and Read 2 of my whole genome sequence (WGS) and I'm trying to interpret the results accurately.
Total PF = 100%
Paired = 99.87%
Read 1 = 49.93%
Read 2 = 49.93%
Aligned = 41.41%
Properly paired = 95.69%
Singletons = 1.47%
Secondary Alignments = 0.32%
Duplicates = 12.63%
Does this mean that since they are so aligned they could show heterozygosity and then a disease causing gene would be recessive? or what is your take on it? Please help.
1 answer
Does this mean that since they are so aligned they could show heterozygosity and then a disease causing gene would be recessive?
No, it just says that your reads were mapped almost all of them (95.69% as properly paired) and a few ones has issues: singletons = only one pair mapped correctly, secondary alignments = some reads have a second good match, duplicates = some reads seems to be duplicated (same sequence and quality scores)
To answer your question you need to check where are they aligned, coverages, SNPs, etc.
You are just at the beginning, after alignment, you need to call variants and then you can check for disease-causing variants, check the process in GATK https://gatk.broadinstitute.org/hc/en-us/categories/360002302312, and prioritize variants with VEP, Gemini, Exomiser, etc.
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