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Heterozygous

Having two different alleles at a locus, one from each parent. For example, heterozygous for a SNP means you carry both the reference and alternate allele.

Example in a sentence

The sample was heterozygous at that locus (0/1 in the VCF).

Key facts

  • Two different alleles; often coded 0/1.
  • Common for many SNPs in the population.

Category: Genetics & Variation

Related terms

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Heterozygous | Bioinformatics Glossary | GENOS.bio