Constraining compressed supersymmetry using leptonic signatures

We study the impact of the multi-lepton searches at the LHC on supersymmetric models with compressed mass spectra. For such models the acceptances of the usual search strategies are significantly reduced due to requirement of large effective mass and missing E_T. On the other hand, lepton searches do have much lower thresholds for missing E_T and p_T of the final state objects. Therefore, if a model with a compressed mass spectrum allows for multi-lepton final states, one could derive constraints using multi-lepton searches. For a class of simplified models we study the exclusion limits using ATLAS multi-lepton search analyses for the final states containing 2-4 electrons or muons with a total integrated luminosity of 1-2/fb at \sqrt{s}=7 TeV. We also modify those analyses by imposing additional cuts, so that their sensitivity to compressed supersymmetric models increase. Using the original and modified analyses, we show that the exclusion limits can be competitive with jet plus missing E_T searches, providing exclusion limits up to gluino masses of 1 TeV. We also analyse the efficiencies for several classes of events coming from different intermediate state particles. This allows us to assess exclusion limits in similar class of models with different cross sections and branching ratios without requiring a Monte Carlo simulation.Comment: 18 pages, 5 figure

A natural little hierarchy for RS from accidental SUSY

We use supersymmetry to address the little hierarchy problem in Randall-Sundrum models by naturally generating a hierarchy between the IR scale and the electroweak scale. Supersymmetry is broken on the UV brane which triggers the stabilization of the warped extra dimension at an IR scale of order 10 TeV. The Higgs and top quark live near the IR brane whereas light fermion generations are localized towards the UV brane. Supersymmetry breaking causes the first two sparticle generations to decouple, thereby avoiding the supersymmetric flavour and CP problems, while an accidental R-symmetry protects the gaugino mass. The resulting low-energy sparticle spectrum consists of stops, gauginos and Higgsinos which are sufficient to stabilize the little hierarchy between the IR scale and the electroweak scale. Finally, the supersymmetric little hierarchy problem is ameliorated by introducing a singlet Higgs field on the IR brane.Comment: 37 pages, 3 figures; v2: minor corrections, version published in JHE

Novel signatures for vector-like quarks

We consider supersymmetric extensions of the standard model with a vector-like doublet (T B) of quarks with charge 2/3 and −1/3, respectively. Compared to non-supersymmetric models, there is a variety of new decay modes for the vector-like quarks, involving the extra scalars present in supersymmetry. The importance of these new modes, yielding multi-top, multi-bottom and also multi-Higgs signals, is highlighted by the analysis of several benchmark scenarios. We show how the triangles commonly used to represent the branching ratios of the ‘standard’ decay modes of the vector-like quarks involving W, Z or Higgs bosons can be generalised to include additional channels. We give an example by recasting the limits of a recent heavy quark search for this more general case.The work of J.A. Aguilar-Saavedra has been supported by MINECO Projects FPA 2016- 78220-C3-1-P and FPA 2013-47836-C3-2-P (including ERDF), and by Junta de Andaluc a Project FQM-101. The work of D.E. L opez-Fogliani has been supported by the Argentinian CONICET. The work of C. Mu~noz has been supported in part by the Programme SEV- 2012-0249 `Centro de Excelencia Severo Ochoa'. D.E. L opez-Fogliani and C. Mu~noz also acknowledge the support of the Spanish grant FPA2015-65929-P (MINECO/FEDER, UE), and MINECO's Consolider-Ingenio 2010 Programme under grant MultiDark CSD2009- 00064

Singlet extensions of the standard model at LHC Run 2: benchmarks and comparison with the NMSSM

The Complex singlet extension of the Standard Model (CxSM) is the simplest extension that provides scenarios for Higgs pair production with different masses. The model has two interesting phases: the dark matter phase, with a Standard Model-like Higgs boson, a new scalar and a dark matter candidate; and the broken phase, with all three neutral scalars mixing. In the latter phase Higgs decays into a pair of two different Higgs bosons are possible. In this study we analyse Higgs-to-Higgs decays in the framework of singlet extensions of the Standard Model (SM), with focus on the CxSM. After demonstrating that scenarios with large rates for such chain decays are possible we perform a comparison between the NMSSM and the CxSM. We find that, based on Higgs-to-Higgs decays, the only possibility to distinguish the two models at the LHC run 2 is through final states with two different scalars. This conclusion builds a strong case for searches for final states with two different scalars at the LHC run 2. Finally, we propose a set of benchmark points for the real and complex singlet extensions to be tested at the LHC run 2. They have been chosen such that the discovery prospects of the involved scalars are maximised and they fulfil the dark matter constraints. Furthermore, for some of the points the theory is stable up to high energy scales. For the computation of the decay widths and branching ratios we developed the Fortran code sHDECAY, which is based on the implementation of the real and complex singlet extensions of the SM in HDECAY

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

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

TSPEAR variants cause autosomal recessive ectodermal dysplasia (ARED) 14. The function of TSPEAR is unknown. The clinical features, the mutation spectrum, and the underlying mechanisms of ARED14 are poorly understood. Combining data from new and previously published individuals established that ARED14 is primarily characterized by dental anomalies such as conical tooth cusps and hypodontia, like those seen in individuals with WNT10A-related odontoonychodermal dysplasia. AlphaFold-predicted structure-based analysis showed that most of the pathogenic TSPEAR missense variants likely destabilize the β-propeller of the protein. Analysis of 100000 Genomes Project (100KGP) data revealed multiple founder TSPEAR variants across different populations. Mutational and recombination clock analyses demonstrated that non-Finnish European founder variants likely originated around the end of the last ice age, a period of major climatic transition. Analysis of gnomAD data showed that the non-Finnish European population TSPEAR gene-carrier rate is ∼1/140, making it one of the commonest AREDs. Phylogenetic and AlphaFold structural analyses showed that TSPEAR is an ortholog of drosophila Closca, an extracellular matrix-dependent signaling regulator. We, therefore, hypothesized that TSPEAR could have a role in enamel knot, a structure that coordinates patterning of developing tooth cusps. Analysis of mouse single-cell RNA sequencing (scRNA-seq) data revealed highly restricted expression of Tspear in clusters representing enamel knots. A tspeara−/−;tspearb−/− double-knockout zebrafish model recapitulated the clinical features of ARED14 and fin regeneration abnormalities of wnt10a knockout fish, thus suggesting interaction between tspear and wnt10a. In summary, we provide insights into the role of TSPEAR in ectodermal development and the evolutionary history, epidemiology, mechanisms, and consequences of its loss of function variants