Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder

Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n similar to 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generations. This may explain the observation of anticipation in mood disorders, whereby onset is earlier and the severity increases over the generations of a family. Joint analyses of rare and common variation may be a powerful way to understand the familial genetics of psychiatric disorders

Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder

Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n similar to 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generations. This may explain the observation of anticipation in mood disorders, whereby onset is earlier and the severity increases over the generations of a family. Joint analyses of rare and common variation may be a powerful way to understand the familial genetics of psychiatric disorders

Enriching the physics program of the CMS experiment via data scouting and data parking

International audienceSpecialized data-taking and data-processing techniques were introduced by the CMS experiment in Run 1 of the CERN LHC to enhance the sensitivity of searches for new physics and the precision of standard model measurements. These techniques, termed data scouting and data parking, extend the data-taking capabilities of CMS beyond the original design specifications. The novel data-scouting strategy trades complete event information for higher event rates, while keeping the data bandwidth within limits. Data parking involves storing a large amount of raw detector data collected by algorithms with low trigger thresholds to be processed when sufficient computational power is available to handle such data. The research program of the CMS Collaboration is greatly expanded with these techniques. The implementation, performance, and physics results obtained with data scouting and data parking in CMS over the last decade are discussed in this Report, along with new developments aimed at further improving low-mass physics sensitivity over the next years of data taking

Observation of double J/ψ\psi meson production in pPb collisions at sNN\sqrt{s_\mathrm{NN}} = 8.16 TeV

International audienceThe first observation of the concurrent production of two J/$\psi$ mesons in proton-nucleus collisions is presented. The analysis is based on a proton-lead (pPb) data sample recorded at a nucleon-nucleon center-of-mass energy of 8.16 TeV by the CMS experiment at the CERN LHC and corresponding to an integrated luminosity of 174.6 nb$^{-1}$. The two J/$\psi$ mesons are reconstructed in their $\mu^+\mu^-$ decay channels with transverse momenta $p_\mathrm{T}$$\gt$ 6.5 GeV and rapidity $\lvert y \rvert$$\lt$ 2.4. Events where one of the J/$\psi$ mesons is reconstructed in the dielectron channel are also considered in the search. The pPb $\to$ J/$\psi$J/$\psi$+X process is observed with a significance of 5.3 standard deviations. The measured inclusive fiducial cross section, using the four-muon channel alone, is $\sigma$(pPb$\to$ J/$\psi$J/$\psi$+X)= 22.0 $\pm$ 8.9 (stat) $\pm$ 1.5 (syst) nb. A fit of the data to the expected rapidity separation for pairs of J/$\psi$ mesons produced in single (SPS) and double (DPS) parton scatterings yields $\sigma^{\mathrm{pPb}\to\mathrm{J}/\psi\mathrm{J}/\psi+\mathrm{X}}_\text{SPS}$ = 16.5 $\pm$ 10.8 (stat) $\pm$ 0.1 (syst) nb and $\sigma^{\mathrm{pPb}\to \mathrm{J}/\psi\mathrm{J}/\psi+\mathrm{X}}_\text{DPS}$ = 5.4 $\pm$ 6.2 (stat) $\pm$ 0.4 (syst) nb, respectively. This latter result can be transformed into a lower bound on the effective DPS cross section, closely related to the squared average interparton transverse separation in the collision, of $\sigma_\text{eff}$$\gt$ 1.0 mb at 95% confidence level

Search for heavy neutral leptons in final states with electrons, muons, and hadronically decaying tau leptons in proton-proton collisions at s\sqrt{s} =13 TeV

International audienceA search for heavy neutral leptons (HNLs) of Majorana or Dirac type using proton-proton collision data at $\sqrt{s}$ =13 TeV is presented. The data were collected by the CMS experiment at the CERN LHC and correspond to an integrated luminosity of 138 fb$^{-1}$. Events with three charged leptons (electrons, muons, and hadronically decaying tau leptons) are selected, corresponding to HNL production in association with a charged lepton and decay of the HNL to two charged leptons and a standard model (SM) neutrino. The search is performed for HNL masses between 10 GeV and 1.5 TeV. No evidence for an HNL signal is observed in data. Upper limits at 95% confidence level are found for the squared coupling strength of the HNL to SM neutrinos, considering exclusive coupling of the HNL to a single SM neutrino generation, for both Majorana and Dirac HNLs. The limits exceed previously achieved experimental constraints for a wide range of HNL masses, and the limits on tau neutrino coupling scenarios with HNL masses above the W boson mass are presented for the first time

Search for CP violation in D0→KS0KS0 \mathrm{D^0}\to\mathrm{K^0_S}\mathrm{K^0_S} decays in proton-proton collisions at s= \sqrt{s} = 13 TeV

A search is reported for charge-parity CP violation in $\mathrm{D^0}\to\mathrm{K^0_S}\mathrm{K^0_S}$ decays, using data collected in proton-proton collisions at $\sqrt{s} =$ 13 TeV recorded by the CMS experiment in 2018. The analysis uses a dedicated data set that corresponds to an integrated luminosity of 41.6 fb$^{-1}$, which consists of about 10 billion events containing a pair of b hadrons, nearly all of which decay to charm hadrons. The flavor of the neutral $\mathrm{D}$ meson is determined by the pion charge in the reconstructed decays $\mathrm{D}^{*+}\to\mathrm{D^0}\pi^{+}$ and $\mathrm{D}^{*-}\to\overline{\mathrm{D}}^{0}\pi^{-}$. The CP asymmetry in $\mathrm{D^0}\to\mathrm{K^0_S}\mathrm{K^0_S}$ is measured to be $A_{CP}(\mathrm{K^0_S}\mathrm{K^0_S}) =$ (6.2 $\pm$ 3.0 $\pm$ 0.2 $\pm$ 0.8)%, where the three uncertainties represent the statistical uncertainty, the systematic uncertainty, and the uncertainty in the measurement of the CP asymmetry in the $\mathrm{D^0}\to\mathrm{K^0_S}\pi^{+}\pi^{-}$ decay. This is the first CP asymmetry measurement by CMS in the charm sector as well as the first to utilize a fully hadronic final state.A search is reported for charge-parity D$^0$$\to$ K$^0_\mathrm{S}$K$^0_\mathrm{S}$$CP$ violation in D$^0$$\to$ K$^0_\mathrm{S}$K$^0_\mathrm{S}$ decays, using data collected in proton-proton collisions at $\sqrt{s}$ = 13 TeV recorded by the CMS experiment in 2018. The analysis uses a dedicated data set that corresponds to an integrated luminosity of 41.6 fb$^{-1}$, which consists of about 10 billion events containing a pair of ẖadrons, nearly all of which decay to charm hadrons. The flavor of the neutral D meson is determined by the pion charge in the reconstructed decays D$^{*+}$$\to$ D$^0\pi^+$ and D$^{*-}$$\to$ D$^0\pi^-$. The D$^0$$\to$ K$^0_\mathrm{S}$K$^0_\mathrm{S}$$CP$ asymmetry in D$^0$$\to$ K$^0_\mathrm{S}$K$^0_\mathrm{S}$ is measured to be $A_{CP}$( K$^0_\mathrm{S}$K$^0_\mathrm{S}$) = (6.2 $\pm$ 3.0 $\pm$ 0.2 $\pm$ 0.8)%, where the three uncertainties represent the statistical uncertainty, the systematic uncertainty, and the uncertainty in the measurement of the D$^0$ $\to$ K$^0_\mathrm{S}$K$^0_\mathrm{S}$ $CP$ asymmetry in the D$^0$ $\to$ K$^0_\mathrm{S}\pi^+\pi^-$ decay. This is the first D$^0$ $\to$ K$^0_\mathrm{S}$K$^0_\mathrm{S}$ $CP$ asymmetry measurement by CMS in the charm sector as well as the first to utilize a fully hadronic final state