Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions

Mitochondrial DNA (mtDNA) mutations are a common cause of primary mitochondrial disorders, and have also been implicated in a broad collection of conditions, including aging, neurodegeneration, and cancer. Prevalent among these pathogenic variants are mtDNA deletions, which show a strong bias for the loss of sequence in the major arc between, but not including, the heavy and light strand origins of replication. Because individual mtDNA deletions can accumulate focally, occur with multiple mixed breakpoints, and in the presence of normal mtDNA sequences, methods that detect broad-spectrum mutations with enhanced sensitivity and limited costs have both research and clinical applications. In this study, we evaluated semi-quantitative and digital PCR-based methods of mtDNA deletion detection using double-stranded reference templates or biological samples. Our aim was to describe key experimental assay parameters that will enable the analysis of low levels or small differences in mtDNA deletion load during disease progression, with limited false-positive detection. We determined that the digital PCR method significantly improved mtDNA deletion detection sensitivity through absolute quantitation, improved precision and reduced assay standard error

Measurement of J/ψ -pair production in pp collisions at √s = 13 TeV and study of gluon transverse-momentum dependent PDFs

The production cross-section of J/ψ pairs in proton-proton collisions at a centre-of-mass energy of √s = 13 TeV is measured using a data sample corresponding to an integrated luminosity of 4.2 fb−1 collected by the LHCb experiment. The measurement is performed with both J/ψ mesons in the transverse momentum range 0 < pT< 14 GeV/c and rapidity range 2.0 < y < 4.5. The cross-section of this process is measured to be 16.36 ± 0.28 (stat) ± 0.88 (syst) nb. The contributions from single-parton scattering and double-parton scattering are separated based on the dependence of the cross-section on the absolute rapidity difference ∆y between the two J/ψ mesons. The effective cross-section of double-parton scattering is measured to be σeff = 13.1 ± 1.8 (stat) ± 2.3 (syst) mb. The distribution of the azimuthal angle ϕCS of one of the J/ψ mesons in the Collins-Soper frame and the pT-spectrum of the J/ψ pairs are also measured for the study of the gluon transverse-momentum dependent distributions inside protons. The extracted values of ⟨cos 2ϕCS⟩ and ⟨cos 4ϕCS⟩ are consistent with zero, but the presence of azimuthal asymmetry at a few percent level is allowed

Measurement of the CKM angle γ in the B0→DK *0 channel using self-conjugate D→ KS0h+ h- decays

A model-independent study of CP violation in B-0 -> DK (*0) decays is presented using data corresponding to an integrated luminosity of 9 fb(-1) collected by the LHCb experiment at centre-of-mass energies of v s = 7, 8 and 13TeV. The CKM angle. is determined by examining the distributions of signal decays in phase-space bins of the self-conjugate D. K(S)(0)h(+) h(-) decays, where h = p, K. Observables related to CP violation are measured and the angle. is determined to be. = (49+22 -19).. Measurements of the amplitude ratio and strong-phase difference between the favoured and suppressed B-0 decays are also presented

Study of Bc+ → χc π+ decays

A study of B-c(+) -> chi(c) pi(+) decays is reported using proton-proton collision data, collected with the LHCb detector at centre-of-mass energies of 7, 8, and 13TeV, corresponding to an integrated luminosity of 9 fb(-1). The decay B-c(+) -> chi(c2)pi(+) is observed for the first time, with a significance exceeding seven standard deviations. The relative branching fraction with respect to the B-c(+) -> J/psi pi(+) decay is measured to beBBc+ ->chi c2 pi+/BBc+ -> (J/psi pi+) = 0.37 +/- 0.06 +/- 0.02 +/- 0.01,where the first uncertainty is statistical, the second is systematic, and the third is due to the knowledge of the chi(c2) -> J/psi gamma branching fraction. No significant B-c(+) -> chi(+)(c1 pi) signal is observed and an upper limit for the relative branching fraction for the B-c(+) -> chi(c1)pi(+) and B-c(+) -> chi(c2)pi(+) decays ofBBc+ ->chi c1 pi+/BBc+ -> chi(c2)pi(+) < 0.49is set at the 90% confidence level