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Forum: Genetic variation data analysis frequently tricky problems and troubleshot

I open a forum to record frequently problem I met in the genetic data analysis. Just come to this field and find lots of interesting things to share.

  1. Some SNP have multiple genomic positions, maybe in same chromosome or different chromosome. For example, rs10408018 located in chr19: 41543327 and chrX: 67106620. These specific SNPs will bring lots of troubles for plink analysis. (since plink don't allow non-unique rsid for the anlayisis pipeline). Solution: remove any one of the repeated SNPs with --exclude. and be careful, missnp result sometimes start with a special . in the first line, remove it before use --exclude
  2. vcf format files derived from NGS will have genotypes like ./. and ./0, it will make plink stop running, remove such genotype from vcf files. Plink is used to deal with genotyping data from microarray, not sequencing data.
vcf snp plink

rs10408018 located in chr19: 41543327 and chrX: 67106620

If I search in dbSNP I find only the one on chr19. I'm not sure where your results are from?

I find it in 1000 genome raw vcf file

Is this post incomplete (by design)? Did you mean to add (or keep adding) new things as you find them (I see a 2. but no content for that point)?

Yes, recently, I am working on genetic variants (SNPs) data. I will record most details as long my working. What I am doing is our own GWAS data, Hapmap3, 1000 Genome and POPRES project data. I believe there will be huge number tricky things come out and need to fix them

Any suggestion on haplotype phasing? How to save time...

For #2, what version of plink are you running? All builds in the last ~3 years support ./. and (with the appropriate —vcf-half-call setting) ./0 .

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