Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

The evolving SARS-CoV-2 epidemic in Africa: Insights from rapidly expanding genomic surveillance

INTRODUCTION Investment in Africa over the past year with regard to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sequencing has led to a massive increase in the number of sequences, which, to date, exceeds 100,000 sequences generated to track the pandemic on the continent. These sequences have profoundly affected how public health officials in Africa have navigated the COVID-19 pandemic. RATIONALE We demonstrate how the first 100,000 SARS-CoV-2 sequences from Africa have helped monitor the epidemic on the continent, how genomic surveillance expanded over the course of the pandemic, and how we adapted our sequencing methods to deal with an evolving virus. Finally, we also examine how viral lineages have spread across the continent in a phylogeographic framework to gain insights into the underlying temporal and spatial transmission dynamics for several variants of concern (VOCs). RESULTS Our results indicate that the number of countries in Africa that can sequence the virus within their own borders is growing and that this is coupled with a shorter turnaround time from the time of sampling to sequence submission. Ongoing evolution necessitated the continual updating of primer sets, and, as a result, eight primer sets were designed in tandem with viral evolution and used to ensure effective sequencing of the virus. The pandemic unfolded through multiple waves of infection that were each driven by distinct genetic lineages, with B.1-like ancestral strains associated with the first pandemic wave of infections in 2020. Successive waves on the continent were fueled by different VOCs, with Alpha and Beta cocirculating in distinct spatial patterns during the second wave and Delta and Omicron affecting the whole continent during the third and fourth waves, respectively. Phylogeographic reconstruction points toward distinct differences in viral importation and exportation patterns associated with the Alpha, Beta, Delta, and Omicron variants and subvariants, when considering both Africa versus the rest of the world and viral dissemination within the continent. Our epidemiological and phylogenetic inferences therefore underscore the heterogeneous nature of the pandemic on the continent and highlight key insights and challenges, for instance, recognizing the limitations of low testing proportions. We also highlight the early warning capacity that genomic surveillance in Africa has had for the rest of the world with the detection of new lineages and variants, the most recent being the characterization of various Omicron subvariants. CONCLUSION Sustained investment for diagnostics and genomic surveillance in Africa is needed as the virus continues to evolve. This is important not only to help combat SARS-CoV-2 on the continent but also because it can be used as a platform to help address the many emerging and reemerging infectious disease threats in Africa. In particular, capacity building for local sequencing within countries or within the continent should be prioritized because this is generally associated with shorter turnaround times, providing the most benefit to local public health authorities tasked with pandemic response and mitigation and allowing for the fastest reaction to localized outbreaks. These investments are crucial for pandemic preparedness and response and will serve the health of the continent well into the 21st century

Crustal-scale transcurrent fault development in a weak-layered crust from an integrated geophysical research: Carboneras Fault Zone, eastern Betic Cordillera, Spain

International audienceNew magnetotelluric and receiver transfer function studies provide insights from the upper to the lower crust of the eastern Betic Cordillera, which is deformed by large folds, normal faults, and a major transcurrent left-lateral fault, the Carboneras Fault Zone (CFZ). Receiver function analysis determines a NNW dipping Moho reaching 20 degrees that increases in depth, from 20 km south of the CFZ up to 34 km in the Sierra de Los Filabres. In addition, seismic discontinuities determined in the upper crust are interpreted as major contacts between metamorphic complexes that are detached and folded. The MT inversion model reveals a conductive zone, also representing a crustal seismic discontinuity, associated with the Alpujarride/Nevado-Filabride contact and fitting the N vergent geometry of the Sierra Alhamilla antiform. A small flexure at Moho coincides with the CFZ, as revealed by the Bouguer anomaly trend, in agreement with the receiver function results. Moreover, the Bahr strike and tipper angle at the stations placed closest to the CFZ clearly reveal the continuity of the CFZ at least down to approximately 15 km in depth, crossing all the detected crustal discontinuities up to the Moho. The lack of a clear Moho offset associated with the Carboneras Fault supports the idea that some large strike-slip faults tend to accommodate the deformation by a broadening fault zone at lower crustal levels. Its nucleation could occur at the base of a thin crust, where melting processes critically reduced the lithospheric strength during the late Miocene, to then propagate upward, reaching the topographic surface. Northward, the lithosphere comprised moderately larger strength, and the crustal discontinuities favored the development of larger folds with kilometric amplitude instead of strike-slip faults since the late Miocene