39 research outputs found
Rapid response to the M_w 4.9 earthquake of November 11, 2019 in Le Teil, Lower Rhône Valley, France
On November 11, 2019, a Mw 4.9 earthquake hit the region close to Montelimar (lower Rhône Valley, France), on the eastern margin of the Massif Central close to the external part of the Alps. Occuring in a moderate seismicity area, this earthquake is remarkable for its very shallow focal depth (between 1 and 3 km), its magnitude, and the moderate to large damages it produced in several villages. InSAR interferograms indicated a shallow rupture about 4 km long reaching the surface and the reactivation of the ancient NE-SW La Rouviere normal fault in reverse faulting in agreement with the present-day E-W compressional tectonics. The peculiarity of this earthquake together with a poor coverage of the epicentral region by permanent seismological and geodetic stations triggered the mobilisation of the French post-seismic unit and the broad French scientific community from various institutions, with the deployment of geophysical instruments (seismological and geodesic stations), geological field surveys, and field evaluation of the intensity of the earthquake. Within 7 days after the mainshock, 47 seismological stations were deployed in the epicentral area to improve the Le Teil aftershocks locations relative to the French permanent seismological network (RESIF), monitor the temporal and spatial evolution of microearthquakes close to the fault plane and temporal evolution of the seismic response of 3 damaged historical buildings, and to study suspected site effects and their influence in the distribution of seismic damage. This seismological dataset, completed by data owned by different institutions, was integrated in a homogeneous archive and distributed through FDSN web services by the RESIF data center. This dataset, together with observations of surface rupture evidences, geologic, geodetic and satellite data, will help to unravel the causes and rupture mechanism of this earthquake, and contribute to account in seismic hazard assessment for earthquakes along the major regional Cévenne fault system in a context of present-day compressional tectonics
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
Le soleil, architecte des plantes
National audienceLa forme des plantes n'est pas due au hasard : plusieurs mécanismes, induits en particulier par la lumière, contribuent à les façonner et influent sur la longueur des tiges, la courbure des troncs, la densité des branchages ou la taille des feuilles. Des découvertes qui ont donné naissance à des applications jusqu'aux pelouses des stades. Tige, branches, feuilles ou fleurs : l'architecture d'une plante est due à ses caractéristiques génétiques, mais aussi à sa réponse à différents signaux environnementaux. Parmi ces derniers, la lumière tient une place essentielle, contrôlant divers mécanismes. Tout d'abord, la direction de la lumière détermine l'orientation de la plante - ce terme désignant ici les plantes herbacées, au contraire des arbres qui sont des plantes ligneuses. C'est ce qu'on appelle le phototropisme. Dans la plupart des cas, cette lumière est celle du soleil, on parle alors d'héliotropisme. Pour s'orienter vers la lumière, la plante s'appuie sur un moteur : la croissance différentielle, qui fait qu'un côté de ..
Les fouilles françaises de Abu Saiba (Mont 1). Données nouvelles sur la phase Tylos de Bahreïn (c. 200 av. J.-C. – 300 ap. J.-C.)
International audienceSince 2017, the French Archaeological Mission in Bahrain has been engaged in a research project at Abu Saiba, a major necropolis from the Tylos archaeological period of the island (c.200 BC-AD 300). The site appears as the typical, roughly circular, low mound generally constituting a Tylos cemetery, with a diameter of c.70 m and a height of c.4-5 m. Fifty built graves have already been identified and eighteen were excavated by a team including a bio-archaeologist. The presence, above several of them, of a sandy mound covered with flat stones-a traditional marker of high status-shows the importance of the community buried there. The organization of the cemetery as well as the architecture of the tombs are discussed here, and special attention is paid to the burial rituals. Looting in antiquity was extensive but not systematic, and the few grave-goods recovered (glazed vessels, daily life items, jewellery, and adornments) indicate a main occupation covering the end of the first century BC and the first century AD. The identification of recurring Bronze Age pottery between the graves is puzzling and could indicate the existence, at a lower level, of an earlier cemetery from the early Dilmun phase
Les fouilles françaises de Abu Saiba (Mont 1). Données nouvelles sur la phase Tylos de Bahreïn (c. 200 av. J.-C. – 300 ap. J.-C.)
International audienceSince 2017, the French Archaeological Mission in Bahrain has been engaged in a research project at Abu Saiba, a major necropolis from the Tylos archaeological period of the island (c.200 BC-AD 300). The site appears as the typical, roughly circular, low mound generally constituting a Tylos cemetery, with a diameter of c.70 m and a height of c.4-5 m. Fifty built graves have already been identified and eighteen were excavated by a team including a bio-archaeologist. The presence, above several of them, of a sandy mound covered with flat stones-a traditional marker of high status-shows the importance of the community buried there. The organization of the cemetery as well as the architecture of the tombs are discussed here, and special attention is paid to the burial rituals. Looting in antiquity was extensive but not systematic, and the few grave-goods recovered (glazed vessels, daily life items, jewellery, and adornments) indicate a main occupation covering the end of the first century BC and the first century AD. The identification of recurring Bronze Age pottery between the graves is puzzling and could indicate the existence, at a lower level, of an earlier cemetery from the early Dilmun phase
Les fouilles françaises de Abu Saiba (Mont 1). Données nouvelles sur la phase Tylos de Bahreïn (c. 200 av. J.-C. – 300 ap. J.-C.)
International audienceSince 2017, the French Archaeological Mission in Bahrain has been engaged in a research project at Abu Saiba, a major necropolis from the Tylos archaeological period of the island (c. 200 BC–300 AD). The site appears as the typical, roughly circular, low mound generally constituted by a Tylos cemetery, with a diameter of c. 70m and a height of c. 4 to 5m.50 built graves have already been identified and 18 were excavated by a team including a bio-archaeologist. The presence, above several of them, of a sandy mound covered with flat stones –a traditional marker of high status– shows the importance of the community buried there. The organization of the cemetery, as well as the architecture of the tombs, are discussed here, and special attention is paid to the burial rituals. Antique looting is important, but not systematic, and the few burial offerings recovered (glazed vessels, daily life items, jewelry and adornments) indicate a main occupation covering the end of the 1st century BC and the 1st century AD. The identification of recurring Bronze Age pottery between the graves is puzzling and could indicate the existence, at a lower level, of an earlier cemetery from the Early Dilmun phase
Proceedings of the Seminar for Arabian Studies 50 (2020) Les fouilles françaises de Abu Saiba (Mont 1). Données nouvelles sur la phase Tylos de Bahreïn (c.200 BC-AD 300)
International audienceSince 2017, the French Archaeological Mission in Bahrain has been engaged in a research project at Abu Saiba, a major necropolis from the Tylos archaeological period of the island (c.200 BC-AD 300). The site appears as the typical, roughly circular, low mound generally constituting a Tylos cemetery, with a diameter of c.70 m and a height of c.4-5 m. Fifty built graves have already been identified and eighteen were excavated by a team including a bio-archaeologist. The presence, above several of them, of a sandy mound covered with flat stones-a traditional marker of high status-shows the importance of the community buried there. The organization of the cemetery as well as the architecture of the tombs are discussed here, and special attention is paid to the burial rituals. Looting in antiquity was extensive but not systematic, and the few grave-goods recovered (glazed vessels, daily life items, jewellery, and adornments) indicate a main occupation covering the end of the first century BC and the first century AD. The identification of recurring Bronze Age pottery between the graves is puzzling and could indicate the existence, at a lower level, of an earlier cemetery from the early Dilmun phase.Since 2017, the French Archaeological Mission in Bahrain has been engaged in a research project at Abu Saiba, a major necropolis from the Tylos archaeological period of the island (c. 200 BC–300 AD). The site appears as the typical, roughly circular, low mound generally constituted by a Tylos cemetery, with a diameter of c. 70m and a height of c. 4 to 5m.50 built graves have already been identified and 18 were excavated by a team including a bio-archaeologist. The presence, above several of them, of a sandy mound covered with flat stones –a traditional marker of high status– shows the importance of the community buried there. The organization of the cemetery, as well as the architecture of the tombs, are discussed here, and special attention is paid to the burial rituals. Antique looting is important, but not systematic, and the few burial offerings recovered (glazed vessels, daily life items, jewelry and adornments) indicate a main occupation covering the end of the 1st century BC and the 1st century AD. The identification of recurring Bronze Age pottery between the graves is puzzling and could indicate the existence, at a lower level, of an earlier cemetery from the Early Dilmun phase