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result(s) for
"Navarro, P."
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Genomics and data science: an application within an umbrella
by
Navarro, Fábio C. P.
,
Mohsen, Hussein
,
Yan, Chengfei
in
Animal Genetics and Genomics
,
Artificial intelligence
,
Bioinformatics
2019
Data science allows the extraction of practical insights from large-scale data. Here, we contextualize it as an umbrella term, encompassing several disparate subdomains. We focus on how genomics fits as a specific application subdomain, in terms of well-known 3 V data and 4 M process frameworks (volume-velocity-variety and measurement-mining-modeling-manipulation, respectively). We further analyze the technical and cultural “exports” and “imports” between genomics and other data-science subdomains (e.g., astronomy). Finally, we discuss how data value, privacy, and ownership are pressing issues for data science applications, in general, and are especially relevant to genomics, due to the persistent nature of DNA.
Journal Article
A map of roadmaps for zero and low energy and carbon buildings worldwide
2020
Formulation of targets and establishing which factors in different contexts will achieve these targets are critical to successful decarbonization of the building sector. To contribute to this, we have performed an evidence map of roadmaps for zero and low energy and carbon buildings (ZLECB) worldwide, including a list and classification of documents in an on-line geographical map, a description of gaps, and a narrative review of the knowledge gluts. We have retrieved 1219 scientific documents from Scopus, extracted metadata from 274 documents, and identified 117 roadmaps, policies or plans from 27 countries worldwide. We find that there is a coverage bias towards more developed regions. The identified scientific studies are mostly recommendations to policy makers, different types of case studies, and demonstration projects. The geographical inequalities found in the coverage of the scientific literature are even more extreme in the coverage of the roadmaps. These underexplored world regions represent an area for further investigation and increased research/policy attention. Our review of the more substantial amount of literature and roadmaps for developed regions shows differences in target metrics and enforcement mechanisms but that all regions dedicate some efforts at national and local levels. Roadmaps generally focus more on new and public buildings than existing buildings, despite the fact that the latter are naturally larger in number and total floor area, and perform less energy efficiently. A combination of efficiency, technical upgrades, and renewable generation is generally proposed in the roadmaps, with behavioral measures only reflected in the use of information and communication technologies, and minimal focus being placed on lifecycle perspectives. We conclude that insufficient progress is being made in the implementation of ZLECB. More work is needed to couple the existing climate goals, with realistic, enforceable policies to make the carbon savings a reality for different contexts and stakeholders worldwide.
Journal Article
Application of high-dimensional feature selection: evaluation for genomic prediction in man
2015
In this study, we investigated the effect of five feature selection approaches on the performance of a mixed model (G-BLUP) and a Bayesian (Bayes C) prediction method. We predicted height, high density lipoprotein cholesterol (HDL) and body mass index (BMI) within 2,186 Croatian and into 810 UK individuals using genome-wide SNP data. Using all SNP information Bayes C and G-BLUP had similar predictive performance across all traits within the Croatian data and for the highly polygenic traits height and BMI when predicting into the UK data. Bayes C outperformed G-BLUP in the prediction of HDL, which is influenced by loci of moderate size, in the UK data. Supervised feature selection of a SNP subset in the G-BLUP framework provided a flexible, generalisable and computationally efficient alternative to Bayes C; but careful evaluation of predictive performance is required when supervised feature selection has been used.
Journal Article
RADES axion search results with a high-temperature superconducting cavity in an 11.7 T magnet
by
Melcón, A. Álvarez
,
Cogollos, C.
,
Golm, J.
in
Classical and Quantum Gravitation
,
Collaboration
,
Confidence intervals
2025
A
bstract
We describe the results of a haloscope axion search performed with an 11.7 T dipole magnet at CERN. The search used a custom-made radio-frequency cavity coated with high-temperature superconducting tape. A set of 27 h of data at a resonant frequency of around 8.84 GHz was analysed. In the range of axion mass 36.5676
μ
eV to 36.5699
μ
eV, corresponding to a width of 554 kHz, no signal excess hinting at an axion-like particle was found. Correspondingly, in this mass range, a limit on the axion to photon coupling-strength was set in the range between g
aγ
≳ 6.3 × 10
−13
GeV
−1
and g
aγ
≳ 1.59 × 10
−13
GeV
−1
with a 95% confidence level.
Journal Article
POS0444 ARTIFICIAL INTELLIGENCE VERSUS RHEUMATOLOGIST IN DECISION MAKING IN THE TREATMENT OF RHEUMATOID ARTHRITIS. DO WE THINK ALIKE?
by
Cardoso-Peñafiel, P.
,
Andréu Sánchez, J. L.
,
Martínez Rodado, A.
in
Artificial Intelligence
,
Biological products
,
Chatbots
2024
Background:Decision making in the treatment of rheumatoid arthritis is a complex process. The opinion on the use of Artificial Intelligence (AI) in therapeutic decision-making is a controversial topic, while some see AI as an ally, others as a threat.Objectives:Compare the attitude of Spanish rheumatologists in different clinical situations with the answers provided by AI.Methods:An online Google form with 15 questions was sent through social networks to several groups of rheumatologists in the national territory. Descriptive statistical analysis was carried out, subsequently the survey was completed by ChatGPT 3.5 and ChatGPT 4.Results:108 surveys were collected. In patients with recent-onset RA with poor prognostic factors, in addition to corticosteroids, half of those surveyed (50%) begin treatment with csDMARD + rapid escalation to bDMARD/sd if response is insufficient, while chatGPT 3.5 leans towards bDMARD/sd±MTX from baseline and chatGPT 4 due to combined therapy with ≥ 2 csDMARDs. The majority of rheumatologists (47.2%) and ChatGPT 3.5 and 4 agree that the patient’s profile is the most important factor when choosing the drug. The most relevant factors when choosing each DMARD are: anti-TNF, rheumatologists (47.2%) due to its cost-effectiveness; AI for its effectiveness; anti-IL6, due to its effectiveness (rheumatologists (72.2%) and AI); abatacept, for its efficacy and safety in RA-ILD patients (rheumatologists (53.7%) and AI); rituximab, for its safety in patients refractory to other treatments (rheumatologists (76.9%) and ChatGPT 3.5), for its effectiveness in seropositive patients (ChatGPT 4); JAK inhibitor, due to the possibility of use in monotherapy (rheumatologists (40.7%) and ChatGPT 3.5) and efficacy (ChatGPT 4). The most important factor that makes rheumatologists (57.4%) and Chat GPT 4 change treatment is the measurement of activity, while ChatGPT 3.5 responded “existence of other potentially more effective or safe therapeutic alternatives.” If there is a good therapeutic response, the majority of rheumatologists (50%) and ChatGPT 4 would first optimize the bDMARD/sd administration interval, while ChatGPT 3.5 would simultaneously optimize the csDMARD and bDMARD/sd. In case of using combined therapy of csDMARD and bDMARD/sdDMARD, both the majority of the rheumatologists surveyed (59.3%) and IA recommend maintaining csDMARD in addition to the bDMARD/sdDMARD. Regarding the use of corticosteroids, the vast majority of colleagues (79.6%) and ChatGPT4 prefer to try to stop them as soon as possible, while ChatGPT 3.5 would choose to maintain low doses, unless there are specific comorbidities. In the event of pregnancy, 59.3% of those surveyed replace the drug with a safer one, while IA opts to maintain the drug if it is anti-TNF. Incident diagnosis of cancer is a reason for discontinuation of all bDMARDs/sd for 47.2% of respondents, however the IA would prefer to maintain/switch to rituximab if the patient is receiving bDMARD/sd. Finally, biosimilar drugs are considered equally effective and safe as the originals by both rheumatologists (80.6%) and AI.Conclusion:A striking heterogeneity has been observed in the way of acting in complex clinical situations, both among rheumatologists and in comparison with ChatGPT. Among rheumatologists, there is consensus on the need to limit the use of corticosteroids, on the use of activity indices to evaluate therapeutic response and on the wide acceptance of biosimilar drugs, the latter is also supported by AI. ChatGPT 4 shows greater agreement with the rheumatologist’s opinions than ChatGPT 3.5.REFERENCES:NIL.Acknowledgements:NIL.Disclosure of Interests:None declared.
Journal Article
Methods and restrictions to increase the volume of resonant rectangular-section haloscopes for detecting dark matter axions
by
Gimeno, B.
,
García-Barceló, J. M.
,
Díaz-Morcillo, A.
in
Axions and ALPs
,
Classical and Quantum Gravitation
,
Dark matter
2023
A
bstract
Haloscopes are resonant cavities that serve as detectors of dark matter axions when they are immersed in a strong static magnetic field. In order to increase the volume and improve space compatibility with dipole or solenoid magnets for axion searches, various haloscope design techniques for rectangular geometries are discussed in this study. The volume limits of two types of haloscopes are explored: those based on single cavities and those based on multicavities. In both cases, possibilities for increasing the volume of long and/or tall structures are presented. For multicavities, 1D geometries are explored to optimise the space in the magnets. Also, 2D and 3D geometries are introduced as a first step in laying the foundations for the development of these kinds of topologies. The results prove the usefulness of the developed methods, evidencing the ample room for improvement in rectangular haloscope designs nowadays. A factor of three orders of magnitude improvement in volume compared with a single cavity based on the WR-90 standard waveguide is obtained with the design of a long and tall single cavity. Similar procedures have been applied for long and tall multicavities. Experimental measurements are shown for prototypes based on tall multicavities and 2D structures, demonstrating the feasibility of using these types of geometries to increase the volume of real haloscopes.
Journal Article
Gene Copy-Number Polymorphism Caused by Retrotransposition in Humans
by
de Souza, Sandro J.
,
Schrider, Daniel R.
,
Camargo, Anamaria A.
in
Base Sequence
,
Biological Evolution
,
Biology
2013
The era of whole-genome sequencing has revealed that gene copy-number changes caused by duplication and deletion events have important evolutionary, functional, and phenotypic consequences. Recent studies have therefore focused on revealing the extent of variation in copy-number within natural populations of humans and other species. These studies have found a large number of copy-number variants (CNVs) in humans, many of which have been shown to have clinical or evolutionary importance. For the most part, these studies have failed to detect an important class of gene copy-number polymorphism: gene duplications caused by retrotransposition, which result in a new intron-less copy of the parental gene being inserted into a random location in the genome. Here we describe a computational approach leveraging next-generation sequence data to detect gene copy-number variants caused by retrotransposition (retroCNVs), and we report the first genome-wide analysis of these variants in humans. We find that retroCNVs account for a substantial fraction of gene copy-number differences between any two individuals. Moreover, we show that these variants may often result in expressed chimeric transcripts, underscoring their potential for the evolution of novel gene functions. By locating the insertion sites of these duplicates, we are able to show that retroCNVs have had an important role in recent human adaptation, and we also uncover evidence that positive selection may currently be driving multiple retroCNVs toward fixation. Together these findings imply that retroCNVs are an especially important class of polymorphism, and that future studies of copy-number variation should search for these variants in order to illuminate their potential evolutionary and functional relevance.
Journal Article
Influence of follicular fluid and cumulus cells on oocyte quality: clinical implications
2018
An equilibrium needs to be established by the cellular and acellular components of the ovarian follicle if developmental competence is to be acquired by the oocyte. Both cumulus cells (CCs) and follicular fluid (FF) are critical determinants for oocyte quality. Understanding how CCs and FF influence oocyte quality in the presence of deleterious systemic or pelvic conditions may impact clinical decisions in the course of managing infertility. Given that the functional integrities of FF and CCs are susceptible to concurrent pathological conditions, it is important to understand how pathophysiological factors influence natural fertility and the outcomes of pregnancy arising from the use of assisted reproduction technologies (ARTs). Accordingly, this review discusses the roles of CCs and FF in ensuring oocyte competence and present new insights on pathological conditions that may interfere with oocyte quality by altering the intrafollicular environment.
Journal Article
Influence of the Degree of Fruitiness on the Quality Assessment of Virgin Olive Oils Using Electronic Nose Technology
by
Martínez Gila, Diego M.
,
Rico, Sergio Illana
,
Satorres Martínez, Silvia
in
Defects
,
e-nose
,
Electronic Nose
2024
The electronic nose is a non-invasive technology suitable for the analysis of edible oils. One of the practical applications in the olive oil industry is the classification of virgin oils based on their sensory characteristics. Notwithstanding that this technology, at this stage, cannot realistically replace the currently used methods, it is fruitful for a preliminary analysis of the oil quality. This work makes use of this technology to develop a methodology for the detection of the threshold by which an extra-virgin olive oil (EVOO) drops into the virgin olive oil (VOO) category. With this aim, two features were studied: the level of fruitiness level and the type of defect. The results showed a greater influence of the level of fruitiness than the type of defect in the determination of the detection threshold. Furthermore, three of the sensors (S2, S7 and S9) of the commercial e-nose PEN3 were identified as the most discriminating in the classification between EVOO and VOO oils.
Journal Article
Diverse human extracellular RNAs are widely detected in human plasma
2016
There is growing appreciation for the importance of non-protein-coding genes in development and disease. Although much is known about microRNAs, limitations in bioinformatic analyses of RNA sequencing have precluded broad assessment of other forms of small-RNAs in humans. By analysing sequencing data from plasma-derived RNA from 40 individuals, here we identified over a thousand human extracellular RNAs including microRNAs, piwi-interacting RNA (piRNA), and small nucleolar RNAs. Using a targeted quantitative PCR with reverse transcription approach in an additional 2,763 individuals, we characterized almost 500 of the most abundant extracellular transcripts including microRNAs, piRNAs and small nucleolar RNAs. The presence in plasma of many non-microRNA small-RNAs was confirmed in an independent cohort. We present comprehensive data to demonstrate the broad and consistent detection of diverse classes of circulating non-cellular small-RNAs from a large population.
Extracellular miRNAs are present in a variety of bodily fluids. Here, Freedman
et al
. analysed plasma-derived RNA by RNA-seq from 40 people followed by targeted RT-qPCR in an additional 2,763 people, and report over 1,000 extracellular RNAs including microRNAs, piwi-interacting RNA and small nucleolar RNAs.
Journal Article