Biallelic structural variations within detected by long-read sequencing in epilepsy.

We discovered biallelic intragenic structural variations (SVs) in by applying long-read whole genome sequencing to an exome-negative patient with developmental and epileptic encephalopathy (DEE). We also found another DEE patient carrying a biallelic (homozygous) single-nucleotide variant (SNV) in that was detected by exome sequencing. heterozygous recurrent missense variants with gain-of-function or heterozygous entire duplication of are known causes of epilepsy, but biallelic SNVs/SVs have never been described.

Biochemical and Nutritional Characterization of Edible Seaweeds from the Peruvian Coast.

In Peru, the number of species of edible seaweeds within the genera , (hereafter ), (hereafter ), and has not been fully established, nor is there a significant level of information available related to their chemical and nutritional composition. This study involved the biochemical analysis of species belonging to ten genera of macroalgae, known edible and some of which have the potential to be used as food, including six red (, , , and ), two green ( and ), and two brown ( and ) species collected along the Peruvian coast (6°-17° S). In the evaluation of 37 specimens, differences were found in the proximal composition, amino acid composition, and fatty acid profiles, which were specific to subgroups and supported their taxonomic classification, mainly at the order level.

Genomic analysis of a reef-building coral, Acropora digitifera, reveals complex population structure and a migration network in the Nansei Islands, Japan.

Understanding the structure and connectivity of coral populations is fundamental for developing marine conservation policies, especially in patchy environments such as archipelagos. The Nansei Islands, extending more than 1000 km in southwestern Japan, are characterized by high levels of biodiversity and endemism, supported by coral reefs, which make this region ideal for assessing genetic attributes of coral populations. In this study, we conducted population genomic analyses based on genome-wide, single-nucleotide polymorphisms (SNPs) of Acropora digitifera, a common species in the Nansei Islands.

Pre-domestication bottlenecks of the cultivated seaweed Gracilaria chilensis.

Gracilaria chilensis is the main cultivated seaweed in Chile. The low genetic diversity observed in the Chilean populations has been associated with the over-exploitation of natural beds and/or the founder effect that occurred during post-glacial colonization from New Zealand. How these processes have affected its evolutionary trajectory before farming and incipient domestication is poorly understood.

Information theory approaches to improve glioma diagnostic workflows in surgical neuropathology.

Aims: Resource-strained healthcare ecosystems often struggle with the adoption of the World Health Organization (WHO) recommendations for the classification of central nervous system (CNS) tumors. The generation of robust clinical diagnostic aids and the advancement of simple solutions to inform investment strategies in surgical neuropathology would improve patient care in these settings.

Methods: We used simple information theory calculations on a brain cancer simulation model and real-world data sets to compare contributions of clinical, histologic, immunohistochemical, and molecular information.