Search results for "Variant"
showing 10 items of 1267 documents
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function
2011
Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P < 5 x 10(-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2. Identification of these 16 new loci may p…
Genome-wide association studies identify four ER negative-specific breast cancer risk loci
2013
Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a metaanalysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environm…
R-Score: A New Parameter to Assess the Quality of Variants’ Calls Assessed by NGS Using Liquid Biopsies
2021
Next-generation sequencing (NGS) has enabled a deeper knowledge of the molecular landscape in non-small cell lung cancer (NSCLC), identifying a growing number of targetable molecular alterations in key genes. However, NGS profiling of liquid biopsies risk for false positive and false negative calls and parameters assessing the quality of NGS calls remains lacking. In this study, we have evaluated the positive percent agreement (PPA) between NGS and digital PCR calls when assessing EGFR mutation status using 85 plasma samples from 82 EGFR-positive NSCLC patients. According to our data, variant allele fraction (VAF) was significantly lower in discordant calls and the median of the absolute va…
Asymptotic characteristics of parabolic similariton pulses in optical fiber amplifiers
2004
The fundamental asymptotic nature of parabolic similariton pulses in normal-dispersion fiber amplifiers is experimentally demonstrated. With frequency-resolved optical gating characterization measurements with a fixed input pulse energy, the output parabolic pulse characteristics are shown to be invariant with the input pulse profile and duration and to be completely determined only by the amplifier parameters.
Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?
2002
A girl with oral, facial, and digital anomalies presented at birth with a large cleft palate filled by a nasopharyngeal mass and was found later to have several vertebral anomalies and mental retardation. A similar phenotype has been previously reported in a sporadic male patient [Gabrielli et al., 1994: Am J Med Genet 53:290-293], suggesting a new variant form of oral-facial-digital syndrome.
Weibull Prediction Limits for a Future Number of Failures Under Parametric Uncertainty
2012
In this paper, we present an accurate procedure, called “within-sample prediction of order statistics,” to obtain prediction limits for the number of failures that will be observed in a future inspection of a sample of units, based only on the results of the first in-service inspection of the same sample. The failure-time of such units is modeled with a two-parameter Weibull distribution indexed by scale and shape parameters β and δ, respectively. It will be noted that in the literature only the case is considered when the scale parameter β is unknown, but the shape parameter δ is known. As a rule, in practice the Weibull shape parameter δ is not known. Instead it is estimated subjectively …
El viaje desde los cuestionarios Likert a los cuestionarios de elección forzosa: evidencia de la invarianza de los parámetros de los ítems
2019
Multidimensional forced-choice questionnaires are widely regarded in the personnel selection literature for their ability to control response biases. Recently developed IRT models usually rely on the assumption that item parameters remain invariant when they are paired in forced-choice blocks, without giving it much consideration. This study aims to test this assumption empirically on the MUPP-2PL model, comparing the parameter estimates of the forced-choice format to their graded-scale equivalent on a Big Five personality instrument. The assumption was found to hold reasonably well, especially for the discrimination parameters. In the cases in which it was violated, we briefly discuss the …
"Table 1" of "K$^{*}(892)^{0}$ and $\phi(1020)$ meson production at high transverse momentum in pp and Pb-Pb collisions at $\sqrt{s_\mathrm{NN}}$ = 2…
2017
Invariant yield of K$^{*0}$ meson normalized to the number of inelastic pp collisions at $\sqrt{s}=2.76~{\rm TeV}$.
"Table 3" of "Neutral pion and $\eta$ meson production at mid-rapidity in Pb-Pb collisions at $\sqrt{s_{NN}}$ = 2.76 TeV"
2018
Invariant yields of the $\eta$ meson in the centrality class 0-10% in Pb-Pb collisions at sqrt{s_NN} = 2.76 TeV at mid-rapidity.
"Table 4" of "Neutral pion and $\eta$ meson production at mid-rapidity in Pb-Pb collisions at $\sqrt{s_{NN}}$ = 2.76 TeV"
2018
Invariant yields of the $\eta$ meson in the centrality class 20-50% in Pb-Pb collisions at sqrt{s_NN} = 2.76 TeV at mid-rapidity.