129 research outputs found
Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer
Colorectal cancer (CRC) shows aggregation in some families but no alterations in the known hereditary CRC genes. We aimed to identify new candidate genes which are potentially involved in germline predisposition to familial CRC. An integrated analysis of germline and tumor whole-exome sequencing data was performed in 18 unrelated CRC families. Deleterious single nucleotide variants (SNV), short insertions and deletions (indels), copy number variants (CNVs) and loss of heterozygosity (LOH) were assessed as candidates for first germline or second somatic hits. Candidate tumor suppressor genes were selected when alterations were detected in both germline and somatic DNA, fulfilling Knudson's two-hit hypothesis. Somatic mutational profiling and signature analysis were also performed. A series of germline-somatic variant pairs were detected. In all cases, the first hit was presented as a rare SNV/indel, whereas the second hit was either a different SNV (3 genes) or LOH affecting the same gene (141 genes). BRCA2, BLM, ERCC2, RECQL, REV3L and RIF1 were among the most promising candidate genes for germline CRC predisposition. The identification of new candidate genes involved in familial CRC could be achieved by our integrated analysis. Further functional studies and replication in additional cohorts are required to confirm the selected candidates
Final Targeting Strategy for the SDSS-IV APOGEE-2N Survey
APOGEE-2 is a dual-hemisphere, near-infrared (NIR), spectroscopic survey with
the goal of producing a chemo-dynamical mapping of the Milky Way Galaxy. The
targeting for APOGEE-2 is complex and has evolved with time. In this paper, we
present the updates and additions to the initial targeting strategy for
APOGEE-2N presented in Zasowski et al. (2017). These modifications come in two
implementation modes: (i) "Ancillary Science Programs" competitively awarded to
SDSS-IV PIs through proposal calls in 2015 and 2017 for the pursuit of new
scientific avenues outside the main survey, and (ii) an effective 1.5-year
expansion of the survey, known as the Bright Time Extension, made possible
through accrued efficiency gains over the first years of the APOGEE-2N project.
For the 23 distinct ancillary programs, we provide descriptions of the
scientific aims, target selection, and how to identify these targets within the
APOGEE-2 sample. The Bright Time Extension permitted changes to the main survey
strategy, the inclusion of new programs in response to scientific discoveries
or to exploit major new datasets not available at the outset of the survey
design, and expansions of existing programs to enhance their scientific success
and reach. After describing the motivations, implementation, and assessment of
these programs, we also leave a summary of lessons learned from nearly a decade
of APOGEE-1 and APOGEE-2 survey operations. A companion paper, Santana et al.
(submitted), provides a complementary presentation of targeting modifications
relevant to APOGEE-2 operations in the Southern Hemisphere.Comment: 59 pages; 11 Figures; 7 Tables; 2 Appendices; Submitted to Journal
and Under Review; Posting to accompany papers using the SDSS-IV/APOGEE-2 Data
Release 17 scheduled for December 202
Wage inequality, segregation by skill and the price of capital in an assignment model
Some pieces of empirical evidence suggest that in the U.S., over the last few decades, (i) wage inequality between-plants has risen much more than wage inequality within-plants and (ii) there has been an increase in the segregation of workers by skill into separate plants. This paper presents a frictionless assignment model in which these two features can be explained simultaneously as the result of the decline in the relative price of capital. Additional implications of the model regarding the skill premium and the dispersion in labor productivity across plants are also consistent with the empirical evidence. [resumen de autor
Inclusive and multiplicity dependent production of electrons from heavy-flavour hadron decays in pp and p-Pb collisions
Measurements of the production of electrons from heavy-flavour hadron decays in pp collisions at root s = 13 TeV at midrapidity with the ALICE detector are presented down to a transverse momentum (p(T)) of 0.2 GeV/c and up to p(T) = 35 GeV/c, which is the largest momentum range probed for inclusive electron measurements in ALICE. In p-Pb collisions, the production cross section and the nuclear modification factor of electrons from heavy-flavour hadron decays are measured in the p(T) range 0.5 < p(T) < 26 GeV/c at root s(NN) = 8.16 TeV. The nuclear modification factor is found to be consistent with unity within the statistical and systematic uncertainties. In both collision systems, first measurements of the yields of electrons from heavy-flavour hadron decays in different multiplicity intervals normalised to the multiplicity-integrated yield (self-normalised yield) at midrapidity are reported as a function of the self-normalised charged-particle multiplicity estimated at midrapidity. The self-normalised yields in pp and p-Pb collisions grow faster than linear with the self-normalised multiplicity. A strong p(T) dependence is observed in pp collisions, where the yield of high-p(T) electrons increases faster as a function of multiplicity than the one of low-p(T) electrons. The measurement in p-Pb collisions shows no p(T) dependence within uncertainties. The self-normalised yields in pp and p-Pb collisions are compared with measurements of other heavy-flavour, light-flavour, and strange particles, and with Monte Carlo simulations
Measurement of the non-prompt D-meson fraction as a function of multiplicity in proton-proton collisions at = 13 TeV
The fractions of non-prompt (i.e. originating from beauty-hadron decays) D0
and D+ mesons with respect to the inclusive yield are measured as a function of the
charged-particle multiplicity in proton-proton collisions at a centre-of-mass energy of √s =
13 TeV with the ALICE detector at the LHC. The results are reported in intervals of
transverse momentum (pT) and integrated in the range 1 < pT < 24 GeV/c. The fraction
of non-prompt D0 and D+ mesons is found to increase slightly as a function of pT in
all the measured multiplicity intervals, while no significant dependence on the charged-
particle multiplicity is observed. In order to investigate the production and hadronisation
mechanisms of charm and beauty quarks, the results are compared to PYTHIA 8 as well
as EPOS 3 and EPOS 4 Monte Carlo simulations, and to calculations based on the colour
glass condensate including three-pomeron fusion
Characterizing the initial conditions of heavy-ion collisions at the LHC with mean transverse momentum and anisotropic flow correlations
Correlations between mean transverse momentum and anisotropic flow coefficients or are measured as a function of centrality in Pb–Pb and Xe–Xe collisions at sqrt(sNN) = 5.02 TeV and 5.44 TeV, respectively, with ALICE. In addition, the recently proposed higher-order correlation between [pt], v2, and v3 is measured for the first time, which shows an anticorrelation for the presented centrality ranges. These measurements are compared with hydrodynamic calculations using IP-Glasma and TRENTO initial-state shapes, the former based on the Color Glass Condensate effective theory with gluon saturation, and the latter a parameterized model with nucleons as the relevant degrees of freedom. The data are better described by the IP-Glasma rather than the TRENTO based calculations. In particular, Trajectum and JETSCAPE predictions, both based on the TRENTO initial state model but with different parameter settings, fail to describe the measurements. As the correlations between [pt] and vn are mainly driven by the correlations of the size and the shape of the system in the initial state, these new studies pave a novel way to characterize the initial state and help pin down the uncertainty of the extracted properties of the quark–gluon plasma recreated in relativistic heavy-ion collisions
General balance functions of identified charged hadron pairs of (pi,K,p) in Pb-Pb collisions at 2.76 TeV
First measurements of balance functions (BFs) of all combinations of identified charged hadron ( π , K, p)
pairs in Pb–Pb collisions at √sNN = 2.76 TeV recorded by the ALICE detector are presented. The BF
measurements are carried out as two-dimensional differential correlators versus the relative rapidity
(delta-y) and azimuthal angle (delta-φ) of hadron pairs, and studied as a function of collision centrality. The delta-φ
dependence of BFs is expected to be sensitive to the light quark diffusivity in the quark–gluon plasma.
While the BF azimuthal widths of all pairs substantially decrease from peripheral to central collisions, the
longitudinal widths exhibit mixed behaviors: BFs of π π and cross-species pairs narrow significantly in
more central collisions, whereas those of KK and pp are found to be independent of collision centrality.
This dichotomy is qualitatively consistent with the presence of strong radial flow effects and the existence
of two stages of quark production in relativistic heavy-ion collisions. Finally, the first measurements of
the collision centrality evolution of BF integrals are presented, with the observation that charge balancing
fractions are nearly independent of collision centrality in Pb–Pb collisions. Overall, the results presented
provide new and challenging constraints for theoretical models of hadron production and transport in
relativistic heavy-ion collisions
Hypertriton Production in p-Pb Collisions at √sNN = 5.02 TeV
The study of nuclei and antinuclei production has proven to be a powerful
tool to investigate the formation mechanism of loosely bound states in
high-energy hadronic collisions. The first measurement of the production of
in p-Pb collisions at = 5.02
TeV is presented in this Letter. Its production yield measured in the rapidity
interval -1 < y < 0 for the 40% highest multiplicity p-Pb collisions is . The measurement is compared with the expectations of statistical
hadronisation and coalescence models, which describe the nucleosynthesis in
hadronic collisions. These two models predict very different yields of the
hypertriton in small collision systems such as p-Pb and therefore the
measurement of is crucial to distinguish between them.
The precision of this measurement leads to the exclusion with a significance
larger than 6 of some configurations of the statistical hadronisation,
thus constraining the production mechanism of loosely bound states
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