Fig. 1: Two categories of genotypes missingness.
From: STICI: Split-Transformer with integrated convolutions for genotype imputation
a Sporadic missingness: It arises due to genotype calling errors and assay failures. Prediction of sporadic missingness is typically done during the pre-phasing step of imputation pipelines. b Systematic missingness: Differences in sequencing resolution are common causes of systematic missingness because a subset of genomic positions are assayed. The inference of missing variants in untyped regions is a major focus of imputation pipelines.
