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Table 1 Definition of the terms used.

From: A 454 multiplex sequencing method for rapid and reliable genotyping of highly polymorphic genes in large-scale studies

Term used

Definition

Reads

Sequences passing quality control (QC) criteria after BaseCall, generated from 454 sequencing using manufacturer specifications.

Sequences

Reads remaining in the dataset after the first step of our data processing procedure (Table 2).

Variants

Sequences differing by at least one base pair substitution or by an indel.

Artifactual sequences or artifactual variants

Sequences or variants that resulted from sequencing errors, polymerase errors and non-specific amplifications of paralogue and pseudogene during PCR (Table 2).

True sequences or true variants

Sequences or variants that were retained after validation at all stages of our stepwise procedure.