Relationship between Ploidy, Alleles and Genotypes

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Introduction

Ploidy, alleles are independent characteristics that give rise to genotypes.

Table

Case Alleles Genotypes Index comments
ploidy \le alleles ploidy alleles

 

18794 18849 bcftools's normalization is buggy, variants were truncated despite having differing prefix.
ploidy gt alleles - - - -
#normalized after gatk - 0 57 57 variants from GATK's normalization were left aligned by vt. 6 were biallelic and 51 were multiallelic. Note that 2 variants were changed by GATK but were not completely normalized.
#normalized after vt - 0 0 no variants processed by vt were further normalized.