Sergio Lois

TL;DR: It is shown that ctDNA derived from central nervous system tumours is more abundantly present in the cerebrospinal fluid (CSF) than in plasma, allowing the identification of actionable brain tumour somatic mutations and facilitating and complement the diagnosis of leptomeningeal carcinomatosis.

TL;DR: Overall, experimental evidence suggests that these domains could be involved in the recruitment of histone‐modifying enzymes to discrete chromosomal locations, and/or in the regulation their enzymatic activity.

TL;DR: This article will cover RNA-seq analyses best practices applied to clinical routine, bioinformatics procedures, and present challenges of this approach.

TL;DR: Mutation prediction methods based on properties such as mutation location in the protein structure, interspecies conservation, and so on have good success rates, although representation over time suggests there is a performance plateau that would limit their applicability.

TL;DR: This work first compared mutations of this enzyme known to cause FD with neutral sequence variants, using several structure and sequence properties, and used these properties to develop a family of prediction methods adapted to different quality requirements, which confirmed that this specific approach can effectively contribute to the identification of pathological mutations in GLA.