GLOL

Chapter 2 / Orientation

A genotype call becomes a variant candidate only after context is added.

A result such as GA is an observed call. Annotation systems usually require chromosome, position, reference allele, alternate allele, genome build, and strand confidence.

Observed

CSV call

GA reports two allele letters observed for a marker in the source file.

Assumption required

Coordinate system

The coordinate must be tied to a genome build before it can be compared across resources.

Assumption required

Reference orientation

The reference allele and strand determine whether a candidate can be written as G>A, A>G, or something else.

Inferred

Variant candidate

The candidate is useful for lookup and modeling, but it should stay labeled as inferred until checked.

Practical rule

Do not treat the result field as variant notation. Treat it as an observed genotype call that must be oriented against a reference before deeper annotation or clinical review.