Targeting Werner syndrome helicase might constitute a novel opportunity for the treatment of a clinically defined subset of patients harboring MSI-H/MMR-deficient tumors.

When mismatch repair is compromised heterozygous loss of Pol ε proofreading is sufficient to drive a subset of the observed clinical characteristics of Pol ε tumors.

A comprehensive catalogue of somatic mutations accumulating in MMR-deficient tumors highlights their relevance in the context of human genetic evolution, for the diagnosis of microsatellite instability and the provision of targeted treatment options.

CNApp is a novel and unique web-based software that enables the performance of comprehensive and integrative analysis of genomic copy number alterations to uncover new associations with patient-oriented relevance.

A novel sequencing-based method to characterize CNBP microsatellite expansions in DM2 patients demonstrates benefits for an improved dissection of DM2 genetic architecture, thus potentially ameliorating patient stratification and genetic counseling.

The integration of pHLA binding and pHLA-TCR analysis effectively improves the precision of insilico neoantigen prioritization, potentially enhancing personalized immunotherapies for colorectal cancer.

Expanded repeat RNAs associated with human neurodegenerative diseases can become incorporated into transported granules in neurons, perturbing their function to cause neuritic branching defects.

The short lifetime of orphan genes is a major factor explaining the stability of gene number in Drosophila.

An individual-specific gene interaction perturbation network-based (GIN) approach reveals six stable GIN subtypes (GINS1-6) with distinguishing and high-resolution features.

Mathematical modeling shows that local populations of the malaria parasite self-organize into a limited number of transient but distinct strains through competition for hosts in immunity space.