PWAS Hub: exploring gene-based associations of complex diseases with sex dependency.

The Proteome-Wide Association Study (PWAS) is a protein-based genetic association approach designed to complement traditional variant-based methods like GWAS. PWAS operates in two stages: first, machine learning models predict the impact of genetic variants on protein-coding genes, generating effect scores. These scores are then aggregated into a gene-damaging score for each individual.

PWAS Hub for exploring gene-based associations of common complex diseases.

PWAS (proteome-wide association study) is an innovative genetic association approach that complements widely used methods like GWAS (genome-wide association study). The PWAS approach involves consecutive phases. Initially, machine learning modeling and probabilistic considerations quantify the impact of genetic variants on protein-coding genes' biochemical functions.

Revealing the genetic complexity of hypothyroidism: integrating complementary association methods.

Hypothyroidism is a common endocrine disorder whose prevalence increases with age. The disease manifests itself when the thyroid gland fails to produce sufficient thyroid hormones. The disorder includes cases of congenital hypothyroidism (CH), but most cases exhibit hormonal feedback dysregulation and destruction of the thyroid gland by autoantibodies.

Gene-based association study reveals a distinct female genetic signal in primary hypertension.

Hypertension is a polygenic disease that affects over 1.2 billion adults aged 30-79 worldwide. It is a major risk factor for renal, cerebrovascular, and cardiovascular diseases.