Palaeoenvironmental significance of Toarcian black shales and event deposits from southern Beaujolais, France

New sedimentological, biostratigraphical and geochemical data recording the Toarcian Oceanic Anoxic Event (T-OAE) are reported from a marginal marine succession in southern Beaujolais, France. The serpentinum and bifrons ammonite zones record black shales with high (1-10 wt%) total organic carbon contents (TOC) and dysoxia-tolerant benthic fauna typical of the ‘Schistes Carton' facies well documented in contemporaneous nearby basins. The base of the serpentinum ammonite zone, however, differs from coeval strata of most adjacent basinal series in that it presents several massive storm beds particularly enriched in juvenile ammonites and the dysoxia-tolerant, miniaturized gastropod Coelodiscus. This storm-dominated interval records a marked negative 5‰ carbonate and organic carbon isotope excursion being time-equivalent with that recording storm- and mass flow-deposits in sections of the Lusitanian Basin, Portugal, pointing to the existence of a major tempestite/turbidite event over tropical areas during the T-OAE. Although several explanations remain possible at present, we favour climatically induced changes in platform morphology and storm activity as the main drivers of these sedimentological features. In addition, we show that recent weathering, most probably due to infiltration of O2-rich meteoric water, resulted in the preferential removal of 12C-enriched organic carbon, dramatic TOC loss and total destruction of the lamination of the black shale sequence over most of the studied exposure. These latter observations imply that extreme caution should be applied when interpreting the palaeoenvironmental significance of sediments lacking TOC enrichment and lamination from outcrops with limited surface exposure

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

Marine vertebrate remains from the Toarcian–Aalenian succession of southern Beaujolais, Rhône, France

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Stenopterygiids from the lower Toarcian of Beaujolais and a chemostratigraphic context for ichthyosaur preservation during the Toarcian Oceanic Anoxic Event Running header: Toarcian ichthyosaurs and the T-OAE

International audienceWe report new ichthyosaur material excavated in lower Toarcian levels of the LafargeHolcim Val d'Azergues quarry in Beaujolais, SE France. A partially articulated skull and a smaller, unprepared but likely subcomplete skeleton preserved in a carbonate concretion are identified as stenopterygiids, a family of wide European distribution during the Early Jurassic. These specimens are among the finest preserve

The ExoGRAVITY project: using single mode interferometry to characterize exoplanets

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