Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.

Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination. We report five unrelated neonates with a lethal metabolic disorder characterized by cardiomyopathy, corneal opacities, encephalopathy, hypotonia, and seizures in whom a monoallelic reciprocal duplication at the ATAD3 locus was identified. Analysis of the breakpoint junction fragment indicated that these 67 kb heterozygous duplications were likely mediated by non-allelic homologous recombination at regions of high sequence identity in ATAD3A exon 11 and ATAD3C exon 7. At the recombinant junction, the duplication allele produces a fusion gene derived from ATAD3A and ATAD3C, the protein product of which lacks key functional residues. Analysis of fibroblasts derived from two affected individuals shows that the fusion gene product is expressed and stable. These cells display perturbed cholesterol and mitochondrial DNA organization similar to that observed for individuals with severe ATAD3A deficiency. We hypothesize that the fusion protein acts through a dominant-negative mechanism to cause this fatal mitochondrial disorder. Our data delineate a molecular diagnosis for this disorder, extend the clinical spectrum associated with structural variation at the ATAD3 locus, and identify a third mutational mechanism for ATAD3 gene cluster variants. These results further affirm structural variant mutagenesis mechanisms in sporadic disease traits, emphasize the importance of copy number analysis in molecular genomic diagnosis, and highlight some of the challenges of detecting and interpreting clinically relevant rare gene rearrangements from next-generation sequencing data

Probability for Decisions in Ancient Greece

8 pages, 1 article*Probability for Decisions in Ancient Greece* (Hall, David B.) 8 page

Automatic Essay Scoring in a Brazilian Scenario

This paper presents a novel Automatic Essay Scoring (AES) algorithm tailored for the Portuguese-language essays of Brazil's Exame Nacional do Ensino M\'edio (ENEM), addressing the challenges in traditional human grading systems. Our approach leverages advanced deep learning techniques to align closely with human grading criteria, targeting efficiency and scalability in evaluating large volumes of student essays. This research not only responds to the logistical and financial constraints of manual grading in Brazilian educational assessments but also promises to enhance fairness and consistency in scoring, marking a significant step forward in the application of AES in large-scale academic settings.Comment: 6 pages, 3 figures and 4 table

The Impact of Word Representations on Sequential Neural MWE Identification

International audienceRecent initiatives such as the PARSEME shared task have allowed the rapid development of MWE identification systems. Many of those are based on recent NLP advances, using neural sequence models that take continuous word representations as input. We study two related questions in neural verbal MWE identification: (a) the use of lemmas and/or surface forms as input features, and (b) the use of word-based or character-based em-beddings to represent them. Our experiments on Basque, French, and Polish show that character-based representations yield systematically better results than word-based ones. In some cases, character-based representations of surface forms can be used as a proxy for lem-mas, depending on the morphological complexity of the language

Edition 1.2 of the PARSEME Shared Task on Semi-supervised Identification of Verbal Multiword Expressions

International audienceWe present edition 1.2 of the PARSEME shared task on identification of verbal multiword expressions (VMWEs). Lessons learned from previous editions indicate that VMWEs have low ambiguity, and that the major challenge lies in identifying test instances never seen in the training data. Therefore, this edition focuses on unseen VMWEs. We have split annotated corpora so that the test corpora contain around 300 unseen VMWEs, and we provide non-annotated raw corpora to be used by complementary discovery methods. We released annotated and raw corpora in 14 languages, and this semi-supervised challenge attracted 7 teams who submitted 9 system results. This paper describes the effort of corpus creation, the task design, and the results obtained by the participating systems, especially their performance on unseen expressions

Recent Manuscript Discoveries

The keeper of the manuscripts in the British Museum, Mr. H. ldris Bell, has announced the more or less recent acquisition, all within the last three years, of still more fragments of Greek papyri relating to the gospels and antedating any of the New Testament manuscripts hitherto known. He described the first of these acquisitions in an article in the London Times of January 23, 1935. Our own American news weekly Time considered this find of new papyri of sufficient newsworthy import to refer to it promptly in its issue of February 4, 1935, and with refreshing accuracy

Oración a San Juan Bosco

Copia digital. Valladolid : Junta de Castilla y León. Consejería de Cultura y Turismo, 2009-201