Table 1. The prioritization of the medically relevant alleles with penalty factors.
The numbers of the genetic variants or allelotypes with non-zero coefficient values are shown for the selected four traits. The denominator represents the total number of variables included in the model. The numerator represents the number of the medically relevant alleles, which are one of the following: protein-truncating variants, protein-altering variants, imputed HLA allelotypes, the pathogenic or likely-pathogenic variants in the ClinVar database. The enrichment of the medically relevant variants is also shown.
Trait | Number of selected genetic variants or allelotypes | ||
---|---|---|---|
with penalty factor | without penalty factor | enrichment | |
Standing height | 4187 / 51209 | 2129 / 55937 | 2.15 |
Body mass index | 2543 / 27126 | 977 / 28667 | 2.75 |
High cholesterol | 969 / 5987 | 215 / 5506 | 4.14 |
Asthma | 1022 / 6430 | 250 / 6819 | 4.34 |