69 research outputs found
Wavelet transforms for non-uniform speech recognition
An algorithm for nonuniform speech segmentation and its application in speech recognition systems is presented. A method based on the Modulated Gaussian Wavelet Transform based Speech Analyser (MGWTSA) and the subsequent parametrization block is used to transform a uniform signal into a set of nonuniformly separated frames, with the accurate information being fed into a speech recognition system. The algorithm needs a frame characterizing the signal where necessary, trying to reduce the number of frames per signal as much as possible, without an appreciable reduction in the recognition rate of the system.Peer ReviewedPostprint (published version
Modelling of the analytic spectrum for speech recognition
In this paper, a new spectral representation is introduced and applied to speech recognition. As the widely used LPC autocorrelation technique, it arises from an optimization approach that starts from a set of M+ 1 autocorrelations estimated from the signal samples. This new technique models the analytic spectrum (Fourier's transform of the causal autocorrelation sequence) by assuming that its cepstral coefficients are zero beyond M, and uses an extremely simple algorithm to compute the nonzero coefficients. In speech recognition, the same Euclidean cepstral distance measure that is the object of the optimization is also used to calculate the spectral dissimilarity. Preliminary recognition tests with this technique are presentad.Peer ReviewedPostprint (published version
Movilización de carbono orgánico por distintos procesos erosivos en la conexión ladera-cauce
With the purpose of analysing the type (labile or stable) and quantity of organic carbon (OC) mobilized by different erosive processes identified at the slope-bed connection, the erosion deposits of gullies, sheet erosion, bank erosion and tillage erosion were studied in a small catchment (10 ha) and compared to the characteristics of the catchment soils. Selectivity upon soil detachment and transport was associated to different OC content and types in the erosion deposits. Enrichment ratios of organic carbon sediment/soil were low (~0,40 ± 0,26), even though a slight enrichment was described for fine particles (positively correlated to CO). These results were attributed to mineralization processes prevailing over OC burial in a very active channel where depositional sites are scarce.Con el fin de caracterizar la cantidad y tipo (lábil o recalcitrante) de carbono orgánico (CO) movilizado por distintos procesos erosivos identificados en las conexiones ladera-cauce, se estudiaron las características de los depósitos de erosión concentrada en cárcavas, erosión hídrica laminar, erosión lateral-gravitacional y erosión por laboreo en el contacto ladera-cauce de una cuenca de pequeño tamaño (10 ha) y se relacionaron con las características de los suelos-fuentes originales de donde procedían. La selectividad en el arranque y transporte de suelo de los distintos procesos se pudo asociar a diferentes contenidos y tipos de CO en los depósitos. Las razones de enriquecimiento de carbono orgánico sedimento/suelo fueron bajas (~0,40 ± 0,26), a pesar de haber un ligero enriquecimiento en partículas finas (correlacionadas positivamente con el CO) en los depósitos. Todo ello se atribuyó a los efectos de la mineralización en un cauce muy activo con pocas zonas de deposición y abundantes procesos de erosión no selectiva
PanCancer analysis of somatic mutations in repetitive regions reveals recurrent mutations in snRNA U2
Current somatic mutation callers are biased against repetitive regions, preventing the identification of potential driver alterations in these loci. We developed a mutation caller for repetitive regions, and applied it to study repetitive non protein-coding genes in more than 2200 whole-genome cases. We identified a recurrent mutation at position c.28 in the gene encoding the snRNA U2. This mutation is present in B-cell derived tumors, as well as in prostate and pancreatic cancer, suggesting U2 c.28 constitutes a driver candidate associated with worse prognosis. We showed that the GRCh37 reference genome is incomplete, lacking the U2 cluster in chromosome 17, preventing the identification of mutations in this gene. Furthermore, the 5'-flanking region of WDR74, previously described as frequently mutated in cancer, constitutes a functional copy of U2. These data reinforce the relevance of non-coding mutations in cancer, and highlight current challenges of cancer genomic research in characterizing mutations affecting repetitive genes.© 2022. The Author(s)
Intravascular Large B-Cell Lymphoma Genomic Profile Is Characterized by Alterations in Genes Regulating NF-κB and Immune Checkpoints.
Intravascular large B-cell lymphoma (IVLBCL) is an uncommon lymphoma with an aggressive clinical course characterized by selective growth of tumor cells within the vessels. Its pathogenesis is still uncertain and there is little information on the underlying genomic alterations. In this study, we performed a clinicopathologic and next-generation sequencing analysis of 15 cases of IVLBCL using a custom panel for the detection of alterations in 68 recurrently mutated genes in B-cell lymphomagenesis. Six patients had evidence of hemophagocytic syndrome. Four patients presented concomitantly a solid malignancy. Tumor cells outside the vessels were observed in 7 cases, 2 with an overt diffuse large B-cell cell lymphoma. In 4 samples, tumor cells infiltrated lymphatic vessel in addition to blood capillaries. Programmed death-ligand 1 (PD-L1) was positive in tumor cells in 4 of 11 evaluable samples and in macrophages intermingled with tumor cells in 8. PD-L1 copy number gains were identified in a higher proportion of cases expressing PD-L1 than in negative tumors. The most frequently mutated gene was PIM1 (9/15, 60%), followed by MYD88L265P and CD79B (8/15, 53% each). In 6 cases, MYD88L265P and CD79B mutations were detected concomitantly. We also identified recurrent mutations in IRF4 , TMEM30A , BTG2 , and ETV6 loci (4/15, 27% each) and novel driver mutations in NOTCH2 , CCND3 , and GNA13 , and an IRF4 translocation in 1 case each. The mutational profile was similar in patients with and without evidence of hemophagocytic syndrome and in cases with or without dissemination of tumor cells outside the vessels. Our results confirm the relevance of mutations in B-cell receptor/nuclear factor-κB signaling and immune escape pathways in IVLBCL and identify novel driver alterations. The similar mutational profile in tumors with extravascular dissemination suggests that these cases may also be considered in the spectrum of IVLBCL
Impacts of selected Ecological Focus Area options in European farmed landscapes on climate regulation and pollination services: a systematic map protocol
Background: This systematic map protocol responds to an urgent policy need to evaluate key environmental benefits of new compulsory greening measures in the European Union’s Common Agricultural Policy (CAP), with the aim of building a policy better linked to environmental performance. The systematic map will focus on Ecological Focus Areas (EFAs), in which larger arable farmers must dedicate 5% of their arable land to ecologically beneficial habitats, landscape features and land uses. The European Commission’s Joint Research Centre has used a software tool called the ‘EFA calculator’ to inform the European Commission about environmental benefits of EFA implementation. However, there are gaps in the EFA calculator’s coverage of ecosystem services, especially ‘global climate regulation’, and an opportunity to use systematic mapping methods to enhance its capture of evidence, in advance of forthcoming CAP reforms. We describe a method for assembling a database of relevant, peer-reviewed research conducted in all agricultural landscapes in Europe and neighbouring countries with similar biogeography, addressing the primary question: what are the impacts of selected EFA features in agricultural land on two policy-relevant ecosystem service outcomes—global climate regulation and pollination? The method is streamlined to allow results in good time for the current, time-limited opportunity to influence reforms of the CAP greening measures at European and Member State level. Methods: We will search four bibliographic databases in English, using a predefined and tested search string that focuses on a subset of EFA options and ecosystem service outcomes. The options and outcomes are selected as those with particular policy relevance and traction. Only articles in English will be included. We will screen search results at title, abstract and full text levels, recording the number of studies deemed non-relevant (with reasons at full text). A systematic map database that displays the meta-data (i.e. descriptive summary information about settings and methods) of relevant studies will be produced following full text assessment. The systematic map database will be published as a MS-Excel database. The nature and extent of the evidence base will be discussed, and the applicability of methods to convert the available evidence into EFA calculator scores will be assessed
Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY
Recent evidence suggests that the prognostic impact of gene mutations in patients with chronic lymphocytic leukemia (CLL) may differ depending on the immunoglobulin heavy variable (IGHV) gene somatic hypermutation (SHM) status. In this study, we assessed the impact of nine recurrently mutated genes (BIRC3, EGR2, MYD88, NFKBIE, NOTCH1, POT1, SF3B1, TP53, and XPO1) in pre-treatment samples from 4580 patients with CLL, using time-to-first-treatment (TTFT) as the primary end-point in relation to IGHV gene SHM status. Mutations were detected in 1588 (34.7%) patients at frequencies ranging from 2.3-9.8% with mutations in NOTCH1 being the most frequent. In both univariate and multivariate analyses, mutations in all genes except MYD88 were associated with a significantly shorter TTFT. In multivariate analysis of Binet stage A patients, performed separately for IGHV-mutated (M-CLL) and unmutated CLL (U-CLL), a different spectrum of gene alterations independently predicted short TTFT within the two subgroups. While SF3B1 and XPO1 mutations were independent prognostic variables in both U-CLL and M-CLL, TP53, BIRC3 and EGR2 aberrations were significant predictors only in U-CLL, and NOTCH1 and NFKBIE only in M-CLL. Our findings underscore the need for a compartmentalized approach to identify high-risk patients, particularly among M-CLL patients, with potential implications for stratified management
Molecular map of chronic lymphocytic leukemia and its impact on outcome
Recent advances in cancer characterization have consistently revealed marked heterogeneity, impeding the completion of integrated molecular and clinical maps for each malignancy. Here, we focus on chronic lymphocytic leukemia (CLL), a B cell neoplasm with variable natural history that is conventionally categorized into two subtypes distinguished by extent of somatic mutations in the heavy-chain variable region of immunoglobulin genes (IGHV). To build the ‘CLL map,’ we integrated genomic, transcriptomic and epigenomic data from 1,148 patients. We identified 202 candidate genetic drivers of CLL (109 new) and refined the characterization of IGHV subtypes, which revealed distinct genomic landscapes and leukemogenic trajectories. Discovery of new gene expression subtypes further subcategorized this neoplasm and proved to be independent prognostic factors. Clinical outcomes were associated with a combination of genetic, epigenetic and gene expression features, further advancing our prognostic paradigm. Overall, this work reveals fresh insights into CLL oncogenesis and prognostication
- …