Von Hippel–Lindau (VHL) disease is a rare hereditary cancer syndrome that reduces life expectancy. We aimed to construct a more valuable genotype–phenotype correlation based on alterations in VHL ...

In a now classic paper published in 1991, Alberch introduced the concept of genotype-phenotype (G→P) mapping to provide a framework for a more sophisticated discussion of the integration between ...

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), ...

POSTECH Professor Sanguk Kim's team develops a machine learning model to predict drug toxicity based on genotype-phenotype differences between preclinical models and humans.

New research shows that while a three-base pair, in-frame deletion called p.Met992del in the NF1 gene has a mild phenotype for people with the genetic disorder neurofibromatosis type 1, or NF1, the ...

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 ...

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, ...

Lynch syndrome is linked to germline mutations in mismatch repair genes. We analyzed the genotype-phenotype correlations in the largest cohort so far reported.