Frequently Asked Questions

What do you mean by reference assembly?

The reference assembly is the collection of reference chromosomes and partial assemblies used to represent alternate alleles at any given locus. A reference chromosome is the sequence representation of a given chromosome where a single allele is shown at any given locus.

What is a partial assembly?

Some regions of the genome are sufficiently complex that Single Nucleotide Polymorphisms (SNPs) and small insertion/deletion polymorphisms are insufficient to explain the differences between the alleles. In some regions, the difference is so great that different genes may be available on different alleles. To represent these differences, we create small, local assemblies as alternates to the allele chosen for the reference chromosome.