Any organism is a by-product of both its genetic makeup and the environment. To understand this in detail, we must first appreciate some basic genetic vocabulary and concepts. Here, we provide ...
Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference
Genome-wide association studies (GWAS) have identified thousands of common genetic variants related to complex traits and diseases 1. To deepen the understanding of the biological mechanisms ...
The nature of phenylalanine hydroxylase (PAH) variants determines residual enzyme activity, which modifies the clinical phenotype in phenylketonuria (PKU). We exploited the statistical power of a ...
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