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), ...

Genotype to phenotype: interpretations of the human genome project / Sue Malcolm -- From protein sequence to structure and function / Sylvia B. Nagl -- Genes in population / François Cambien -- ...

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, ...

Northwestern University biophysicists have developed a new computational tool for identifying gene combinations underlying complex illnesses such as diabetes, cancer, and asthma. Unlike single-gene ...

Children's Oncology Group Trial AALL1231: A Phase III Clinical Trial Testing Bortezomib in Newly Diagnosed T-Cell Acute Lymphoblastic Leukemia and Lymphoma Patients with SAs had a mean increase of 120 ...

SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment, causing epilepsy, intellectual disability, ...