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 ...

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), ...

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 ...

Université de Strasbourg and partners report that adding structural variants and small insertion–deletion mutations to single-nucleotide polymorphism analyses raised trait heritability estimates by 14 ...

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 ...

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, ...

Identification of tropomyosin kinase receptor (TRK) mutations in cancer. This is an ASCO Meeting Abstract from the 2015 ASCO Annual Meeting I. This abstract does not include a full text component.