The characteristics of an organism emerge through complex interactions of its genetic make-up and the effects of the environment. This article discusses this terminological distinction in genetics - ...

A new study analyzing the association between an individual's genetics (genotype) and their observable characteristics resulting from the interaction of genetics and the environment (phenotype), ...

Of the more than 3,000 variants that have been identified in the NF1 gene, only a handful of specific variants can be correlated to certain NF1 symptoms. In this post, I’ll discuss the major known ...

Currently, retinoblastoma (RB) occurs in 1 of every 20,000 births, making it the most common pediatric intraocular neoplasm. The cancer results from biallelic inactivation of the RB1 tumor-suppressor ...

Cancers are genetic diseases driven by recurrent sets of somatic mutations. Different mutations associate statistically with distinct disease risks and can therefore be useful prognostic markers. But, ...

Humans have approximately 20,000 human protein-coding genes, and the proteins they express span a concentration range of ~12 logs. Yet only 0.1% of proteins contribute to 99% of the total plasma ...