149 research outputs found
Measuring the impact of COVID-19 on hospital care pathways
Care pathways in hospitals around the world reported significant disruption during the recent COVID-19 pandemic but measuring the actual impact is more problematic. Process mining can be useful for hospital management to measure the conformance of real-life care to what might be considered normal operations. In this study, we aim to demonstrate that process mining can be used to investigate process changes associated with complex disruptive events. We studied perturbations to accident and emergency (A &E) and maternity pathways in a UK public hospital during the COVID-19 pandemic. Co-incidentally the hospital had implemented a Command Centre approach for patient-flow management affording an opportunity to study both the planned improvement and the disruption due to the pandemic. Our study proposes and demonstrates a method for measuring and investigating the impact of such planned and unplanned disruptions affecting hospital care pathways. We found that during the pandemic, both A &E and maternity pathways had measurable reductions in the mean length of stay and a measurable drop in the percentage of pathways conforming to normative models. There were no distinctive patterns of monthly mean values of length of stay nor conformance throughout the phases of the installation of the hospital’s new Command Centre approach. Due to a deficit in the available A &E data, the findings for A &E pathways could not be interpreted
LIPIcs, Volume 261, ICALP 2023, Complete Volume
LIPIcs, Volume 261, ICALP 2023, Complete Volum
Framing Apache Spark in life sciences
Advances in high-throughput and digital technologies have required the adoption of big data for handling complex tasks in life sciences. However, the drift to big data led researchers to face technical and infrastructural challenges for storing, sharing, and analysing them. In fact, this kind of tasks requires distributed computing systems and algorithms able to ensure efficient processing. Cutting edge distributed programming frameworks allow to implement flexible algorithms able to adapt the computation to the data over on-premise HPC clusters or cloud architectures. In this context, Apache Spark is a very powerful HPC engine for large-scale data processing on clusters. Also thanks to specialised libraries for working with structured and relational data, it allows to support machine learning, graph-based computation, and stream processing. This review article is aimed at helping life sciences researchers to ascertain the features of Apache Spark and to assess whether it can be successfully used in their research activities
Applications
Volume 3 describes how resource-aware machine learning methods and techniques are used to successfully solve real-world problems. The book provides numerous specific application examples: in health and medicine for risk modelling, diagnosis, and treatment selection for diseases in electronics, steel production and milling for quality control during manufacturing processes in traffic, logistics for smart cities and for mobile communications
Computational analysis of human genomic variants and lncRNAs from sequence data
The high-throughput sequencing technologies have been developed and applied to the human genome studies for nearly 20 years. These technologies have provided numerous research applications and have significantly expanded our knowledge about the human genome. In this thesis, computational methods that utilize sequence data to study human genomic variants and transcripts were evaluated and developed.
Indel represents insertion and deletion, which are two types of common genomic variants that are widespread in the human genome. Detecting indels from human genomes is the crucial step for diagnosing indel related genomic disorders and may potentially identify novel indel makers for studying certain diseases. Compared with previous techniques, the high-throughput sequencing technologies, especially the next- generation sequencing (NGS) technology, enable to detect indels accurately and efficiently in wide ranges of genome. In the first part of the thesis, tools with indel calling abilities are evaluated with an assortment of indels and different NGS settings. The results show that the selection of tools and NGS settings impact on indel detection significantly, which provide suggestions for tool selection and future developments.
In bioinformatics analysis, an indel’s position can be marked inconsistently on the reference genome, which may result in an indel having different but equivalent representations and cause troubles for downstream. This problem is related to the complex sequence context of the indels, for example, short tandem repeats (STRs), where the same short stretch of nucleotides is amplified. In the second part of the thesis, a novel computational tool VarSCAT was described, which has various functions for annotating the sequence context of variants, including ambiguous positions, STRs, and other sequence context features. Analysis of several high- confidence human variant sets with VarSCAT reveals that a large number of genomic variants, especially indels, have sequence features associated with STRs.
In the human genome, not all genes and their transcripts are translated into proteins. Long non-coding ribonucleic acid (lncRNA) is a typical example. Sequence recognition built with machine learning models have improved significantly in recent years. In the last part of the thesis, several machine learning-based lncRNA prediction tools were evaluated on their predictions for coding potentiality of transcripts. The results suggest that tools based on deep learning identify lncRNAs best. Ihmisen genomivarianttien ja lncRNA:iden laskennallinen analyysi sekvenssiaineistosta
Korkean suorituskyvyn sekvensointiteknologioita on kehitetty ja sovellettu ihmisen genomitutkimuksiin lähes 20 vuoden ajan. Nämä teknologiat ovat mahdollistaneet ihmisen genomin laaja-alaisen tutkimisen ja lisänneet merkittävästi tietoamme siitä. Tässä väitöstyössä arvioitiin ja kehitettiin sekvenssiaineistoa hyödyntäviä laskennallisia menetelmiä ihmisen genomivarianttien sekä transkriptien tutkimiseen.
Indeli on yhteisnimitys lisäys- eli insertio-varianteille ja häviämä- eli deleetio-varianteille, joita esiintyy koko genomin alueella. Indelien tunnistaminen on ratkaisevaa geneettisten poikkeavuuksien diagnosoinnissa ja eri sairauksiin liittyvien uusien indeli-markkereiden löytämisessä. Aiempiin teknologioihin verrattuna korkean suorituskyvyn sekvensointiteknologiat, erityisesti seuraavan sukupolven sekvensointi (NGS) mahdollistavat indelien havaitsemisen tarkemmin ja tehokkaammin laajemmilta genomialueilta. Väitöstyön ensimmäisessä osassa indelien kutsumiseen tarkoitettuja laskentatyökaluja arvioitiin käyttäen laajaa valikoimaa indeleitä ja erilaisia NGS-asetuksia. Tulokset osoittivat, että työkalujen valinta ja NGS-asetukset vaikuttivat indelien tunnistukseen merkittävästi ja siten ne voivat ohjata työkalujen valinnassa ja kehitystyössä.
Bioinformatiivisessa analyysissä saman indelin sijainti voidaan merkitä eri kohtiin referenssigenomia, joka voi aiheuttaa ongelmia loppupään analyysiin, kuten indeli-kutsujen arviointiin. Tämä ongelma liittyy sekvenssikontekstiin, koska variantit voivat sijoittua lyhyille perättäisille tandem-toistojaksoille (STR), jossa sama lyhyt nukleotidijakso on monistunut. Väitöstyön toisessa osassa kehitettiin laskentatyökalu VarSCAT, jossa on eri toimintoja, mm. monitulkintaisten sijaintitietojen, vierekkäisten alueiden ja STR-alueiden tarkasteluun. Luotettaviksi arvioitujen ihmisen varianttiaineistojen analyysi VarSCAT-työkalulla paljasti, että monien geneettisten varianttien ja erityisesti indelien ominaisuudet liittyvät STR-alueisiin.
Kaikkia ihmisen geenejä ja niiden geenituotteita, kuten esimerkiksi ei-koodaavia RNA:ta (lncRNA) ei käännetä proteiiniksi. Koneoppimismenetelmissä ja sekvenssitunnistuksessa on tapahtunut huomattavaa parannusta viime vuosina. Väitöstyön viimeisessä osassa arvioitiin useiden koneoppimiseen perustuvien lncRNA-ennustustyökalujen ennusteita. Tulokset viittaavat siihen, että syväoppimiseen perustuvat työkalut tunnistavat lncRNA:t parhaiten
LIPIcs, Volume 274, ESA 2023, Complete Volume
LIPIcs, Volume 274, ESA 2023, Complete Volum
LeCo: Lightweight Compression via Learning Serial Correlations
Lightweight data compression is a key technique that allows column stores to
exhibit superior performance for analytical queries. Despite a comprehensive
study on dictionary-based encodings to approach Shannon's entropy, few prior
works have systematically exploited the serial correlation in a column for
compression. In this paper, we propose LeCo (i.e., Learned Compression), a
framework that uses machine learning to remove the serial redundancy in a value
sequence automatically to achieve an outstanding compression ratio and
decompression performance simultaneously. LeCo presents a general approach to
this end, making existing (ad-hoc) algorithms such as Frame-of-Reference (FOR),
Delta Encoding, and Run-Length Encoding (RLE) special cases under our
framework. Our microbenchmark with three synthetic and six real-world data sets
shows that a prototype of LeCo achieves a Pareto improvement on both
compression ratio and random access speed over the existing solutions. When
integrating LeCo into widely-used applications, we observe up to 3.9x speed up
in filter-scanning a Parquet file and a 16% increase in Rocksdb's throughput
Research Paper: Process Mining and Synthetic Health Data: Reflections and Lessons Learnt
Analysing the treatment pathways in real-world health data can provide valuable insight for clinicians and decision-makers. However, the procedures for acquiring real-world data for research can be restrictive, time-consuming and risks disclosing identifiable information. Synthetic data might enable representative analysis without direct access to sensitive data. In the first part of our paper, we propose an approach for grading synthetic data for process analysis based on its fidelity to relationships found in real-world data. In the second part, we apply our grading approach by assessing cancer patient pathways in a synthetic healthcare dataset (The Simulacrum provided by the English National Cancer Registration and Analysis Service) using process mining. Visualisations of the patient pathways within the synthetic data appear plausible, showing relationships between events confirmed in the underlying non-synthetic data. Data quality issues are also present within the synthetic data which reflect real-world problems and artefacts from the synthetic dataset’s creation. Process mining of synthetic data in healthcare is an emerging field with novel challenges. We conclude that researchers should be aware of the risks when extrapolating results produced from research on synthetic data to real-world scenarios and assess findings with analysts who are able to view the underlying data
Variant Detection in Brassica Napus
The advent of Next Generation Sequencing (NGS) made molecular markers, such as Single Nucleotide Polymorphisms (SNPs) more commonly used. However, detection of SNPs in polyploid genomes may be challenging i.e. due to higher volumes of repetitive DNA. This project aims to create a computational pipeline for variant detection in the polyploid genome of Brassica Napus.
A total of 304 Single Nucleotide Polymorphisms (SNPs) and 16 Insertions or Deletions (INDELs) were detected across 6 genes. For sequencing, 4 SNPs and 2 INDELs were selected. Despite the latter variation not passing the penultimate filter, sequencing data did reveal a 4bp deletion at position 153 of the FAE1 gene.
The presence of variation, which was computationally filtered out, indicates that too stringent filters were used. However, we demonstrated that our pipeline was able to accurately discard low-quality variants. To mitigate the effects of lenient filtering methods, we suggest further separating the pipeline into independent SNPs and INDELs pipelines to apply variation-specific filters. Moreover, we showed that FASTA clusters could be used as an effective tool to gain insights into complex genomes
Head-Driven Phrase Structure Grammar
Head-Driven Phrase Structure Grammar (HPSG) is a constraint-based or declarative approach to linguistic knowledge, which analyses all descriptive levels (phonology, morphology, syntax, semantics, pragmatics) with feature value pairs, structure sharing, and relational constraints. In syntax it assumes that expressions have a single relatively simple constituent structure. This volume provides a state-of-the-art introduction to the framework. Various chapters discuss basic assumptions and formal foundations, describe the evolution of the framework, and go into the details of the main syntactic phenomena. Further chapters are devoted to non-syntactic levels of description. The book also considers related fields and research areas (gesture, sign languages, computational linguistics) and includes chapters comparing HPSG with other frameworks (Lexical Functional Grammar, Categorial Grammar, Construction Grammar, Dependency Grammar, and Minimalism)
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