Publications by authors named "Xavier Le Guillou Horn"
Background: Gliomas, including the most severe form known as glioblastomas, are primary brain tumors arising from glial cells, with significant impact on adults, particularly men aged 45 to 70. Recent advancements in the WHO (World Health Organization) classification now correlate genetic markers with glioma phenotypes, enhancing diagnostic precision and therapeutic strategies.
Aims And Methods: This scoping review aims to evaluate the current state of deep learning (DL) applications in the genetic characterization of adult gliomas, addressing the potential of these technologies for a reliable virtual biopsy.
Article Synopsis
- KBG syndrome is an autosomal dominant genetic disorder characterized by neurodevelopmental issues, intellectual disability, behavioral problems, epilepsy, and distinct physical features.
- This study aimed to analyze the diagnostic pathway for individuals with KBG syndrome, focusing on the healthcare professionals involved and the reasons for referrals.
- Results indicated that pediatricians were the primary referrers for genetic consultation, mainly due to concerns about learning delays or intellectual disabilities in children.
Article Synopsis
- Variants of uncertain significance (VUS) present challenges in diagnosing rare diseases, and episignatures have emerged as potential biomarkers to help classify these variants.
- A study analyzed DNA methylation data from different groups, including carriers of pathogenic variants and healthy controls, using a k-nearest-neighbour classifier to assess the predictive abilities of various episignatures.
- Results revealed that while some signatures (ATRX, DNMT3A, KMT2D, NSD1) achieved 100% sensitivity, others (CREBBP-RSTS, CHD8) showed lower performance, indicating that not all episignatures are equally reliable for diagnostic use and highlighting the need for further validation with larger sample sizes.
Background: Molecular diagnosis of neurodevelopmental disorders (NDDs) is mainly based on exome sequencing (ES), with a diagnostic yield of 31% for isolated and 53% for syndromic NDD. As sequencing costs decrease, genome sequencing (GS) is gradually replacing ES for genome-wide molecular testing. As many variants detected by GS only are in deep intronic or non-coding regions, the interpretation of their impact may be difficult.
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