| 1. |
- Mullins, N., et al.
(författare)
-
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
- 2021
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 53, s. 817-829
-
Tidskriftsartikel (refereegranskat)abstract
- Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 64 associated genomic loci. Bipolar disorder risk alleles were enriched in genes in synaptic signaling pathways and brain-expressed genes, particularly those with high specificity of expression in neurons of the prefrontal cortex and hippocampus. Significant signal enrichment was found in genes encoding targets of antipsychotics, calcium channel blockers, antiepileptics and anesthetics. Integrating expression quantitative trait locus data implicated 15 genes robustly linked to bipolar disorder via gene expression, encoding druggable targets such as HTR6, MCHR1, DCLK3 and FURIN. Analyses of bipolar disorder subtypes indicated high but imperfect genetic correlation between bipolar disorder type I and II and identified additional associated loci. Together, these results advance our understanding of the biological etiology of bipolar disorder, identify novel therapeutic leads and prioritize genes for functional follow-up studies. Genome-wide association analyses of 41,917 bipolar disorder cases and 371,549 controls of European ancestry provide new insights into the etiology of this disorder and identify novel therapeutic leads and potential opportunities for drug repurposing.
|
|
| 2. |
- Rajewsky, N., et al.
(författare)
-
LifeTime and improving European healthcare through cell-based interceptive medicine
- 2020
-
Ingår i: Nature. - : Springer Nature. - 0028-0836 .- 1476-4687. ; 587:7834, s. 377-386
-
Tidskriftsartikel (refereegranskat)abstract
- LifeTime aims to track, understand and target human cells during the onset and progression of complex diseases and their response to therapy at single-cell resolution. This mission will be implemented through the development and integration of single-cell multi-omics and imaging, artificial intelligence and patient-derived experimental disease models during progression from health to disease. Analysis of such large molecular and clinical datasets will discover molecular mechanisms, create predictive computational models of disease progression, and reveal new drug targets and therapies. Timely detection and interception of disease embedded in an ethical and patient-centered vision will be achieved through interactions across academia, hospitals, patient-associations, health data management systems and industry. Applying this strategy to key medical challenges in cancer, neurological, infectious, chronic inflammatory and cardiovascular diseases at the single-cell level will usher in cell-based interceptive medicine in Europe over the next decade.
|
|
| 3. |
|
|
| 4. |
- Aad, G., et al.
(författare)
-
Search for non-resonant Higgs boson pair production in the 2b+2ℓ+ETmiss final state in pp collisions at s = 13 TeV with the ATLAS detector
- 2024
-
Ingår i: Journal of High Energy Physics. - : Springer Science and Business Media Deutschland GmbH. - 1029-8479 .- 1126-6708. ; 2024:2
-
Tidskriftsartikel (refereegranskat)abstract
- A search for non-resonant Higgs boson pair (HH) production is presented, in which one of the Higgs bosons decays to a b-quark pair (bb¯) and the other decays to WW*, ZZ*, or τ+τ−, with in each case a final state with ℓ+ℓ−+ neutrinos (ℓ = e, μ). The analysis targets separately the gluon-gluon fusion and vector boson fusion production modes. Data recorded by the ATLAS detector in proton-proton collisions at a centre-of-mass energy of 13 TeV at the Large Hadron Collider, corresponding to an integrated luminosity of 140 fb−1, are used in this analysis. Events are selected to have exactly two b-tagged jets and two leptons with opposite electric charge and missing transverse momentum in the final state. These events are classified using multivariate analysis algorithms to separate the HH events from other Standard Model processes. No evidence of the signal is found. The observed (expected) upper limit on the cross-section for non-resonant Higgs boson pair production is determined to be 9.7 (16.2) times the Standard Model prediction at 95% confidence level. The Higgs boson self-interaction coupling parameter κλ and the quadrilinear coupling parameter κ2V are each separately constrained by this analysis to be within the ranges [−6.2, 13.3] and [−0.17, 2.4], respectively, at 95% confidence level, when all other parameters are fixed. © The Author(s) 2024.
|
|
| 5. |
|
|
| 6. |
|
|
| 7. |
|
|
| 8. |
|
|
| 9. |
- Aad, G., et al.
(författare)
-
A search for top-squark pair production, in final states containing a top quark, a charm quark and missing transverse momentum, using the 139 fb−1 of pp collision data collected by the ATLAS detector
- 2024
-
Ingår i: Journal of High Energy Physics (JHEP). - : Springer Science and Business Media Deutschland GmbH. - 1126-6708 .- 1029-8479. ; 2024:7
-
Tidskriftsartikel (refereegranskat)abstract
- This paper presents a search for top-squark pair production in final states with a top quark, a charm quark and missing transverse momentum. The data were collected with the ATLAS detector during LHC Run 2 and correspond to an integrated luminosity of 139 fb−1 of proton-proton collisions at a centre-of-mass energy of s = 13 TeV. The analysis is motivated by an extended Minimal Supersymmetric Standard Model featuring a non-minimal flavour violation in the second- and third-generation squark sector. The top squark in this model has two possible decay modes, either t~1→cχ~10 or t~1→tχ~10, where the χ~10 is undetected. The analysis is optimised assuming that both of the decay modes are equally probable, leading to the most likely final state of tc+ETmiss. Good agreement is found between the Standard Model expectation and the data in the search regions. Exclusion limits at 95% CL are obtained in the mt~1 vs. mχ~10 plane and, in addition, limits on the branching ratio of the t~1→tχ~10 decay as a function of m(t~1) are also produced. Top-squark masses of up to 800 GeV are excluded for scenarios with light neutralinos, and top-squark masses up to 600 GeV are excluded in scenarios where the neutralino and the top squark are almost mass degenerate.
|
|
| 10. |
- Aad, G., et al.
(författare)
-
Anomaly detection search for new resonances decaying into a Higgs boson and a generic new particle X in hadronic final states using √s=13 TeV pp collisions with the ATLAS detector
- 2023
-
Ingår i: Physical Review D. - : AMER PHYSICAL SOC. - 2470-0010 .- 2470-0029. ; 108:5
-
Tidskriftsartikel (refereegranskat)abstract
- A search is presented for a heavy resonance Y decaying into a Standard Model Higgs boson H and a new particle X in a fully hadronic final state. The full Large Hadron Collider run 2 dataset of proton-proton collisions at √s=13 TeV collected by the ATLAS detector from 2015 to 2018 is used and corresponds to an integrated luminosity of 139 fb−1. The search targets the high Y-mass region, where the H and X have a significant Lorentz boost in the laboratory frame. A novel application of anomaly detection is used to define a general signal region, where events are selected solely because of their incompatibility with a learned background-only model. It is constructed using a jet-level tagger for signal-model-independent selection of the boosted X particle, representing the first application of fully unsupervised machine learning to an ATLAS analysis. Two additional signal regions are implemented to target a benchmark X decay into two quarks, covering topologies where the X is reconstructed as either a single large-radius jet or two small-radius jets. The analysis selects Higgs boson decays into , and a dedicated neural-network-based tagger provides sensitivity to the boosted heavy-flavor topology. No significant excess of data over the expected background is observed, and the results are presented as upper limits on the production cross section for signals with mY between 1.5 and 6 TeV and mX between 65 and 3000 GeV.
|
|
