Skip to main content

ETHNOS_APP

Home • Search • Journals • List 0

Incidence, Mortality, and Sex Distribution of Mongoloid Defectives

Bibliographic Data

ID11170950
AuthorsR G Record (University of Birmingham), A Smith (0000-0001-8637-465X)
Year1955
Volume9
Issue1
Pages10-15
Publication date1955-01-01
Peer ReviewedYes
Open AccessNo
TypeARTICLE
VenueJournal of Epidemiology and Community Health (JOURNAL)
Journal identifiersISSN: 0143-005X • E-ISSN: 1470-2738
PublisherBMJ (PUBLISHER • GB)
DOI10.1136/jech.9.1.10
PMID14351707
OpenAlexW2067294848
LanguageEN
Citations received7
References cited7

Alternative splicing is a tightly regulated co- and post-transcriptional process contributing to the transcriptome diversity observed in eukaryotes. Several methods for detecting differential junction usage (DJU) from RNA sequencing (RNA-seq) datasets exist. Yet, efforts to integrate the results from DJU methods are lacking. Here, we present Baltica, a framework that provides workflows for quality control, de novo transcriptome assembly with StringTie2, and currently 4 DJU methods: rMATS, JunctionSeq, Majiq, and LeafCutter. Baltica puts the results from different DJU methods into context by integrating the results at the junction level. We present Baltica using 2 datasets, one containing known artificial transcripts (SIRVs) and the second dataset of paired Illumina and Oxford Nanopore Technologies RNA-seq. The data integration allows the user to compare the performance of the tools and reveals that JunctionSeq outperforms the other methods, in terms of F1 score, for both datasets. Finally, we demonstrate for the first time that meta-classifiers trained on scores of multiple methods outperform classifiers trained on scores of a single method, emphasizing the application of our data integration approach for differential splicing identification. Baltica is available at https://github.com/dieterich-lab/Baltica under MIT license

Alternative splicing · Baltica · Biology · Computational biology · Context (archaeology) · Exon · Gene · Gene expression · RNA · RNA splicing · Transcriptome · Artificial Intelligence · Cancer-related molecular mechanisms research · Computer Science · Genetics · RNA modifications and cancer · RNA Research and Splicing

  • Maternal Age and Birth Rank in the Aetiology of Mongolism

    A Smith, R G Record•Journal of Epidemiology and…•1955

  • Fetal and infant mortality associated with congenital malformations

    I D Richards, I D G Richards•Journal of Epidemiology and…•1973

  • Mortality and cause of death in Down's syndrome

    R Balarajan, S Donnan et al.•Journal of Epidemiology and…•1982

  • Fertility and Reproductive History of Mothers of Mongoloid Defectives

    A Smith, R G Record•Journal of Epidemiology and…•1955

  • Socioeconomic and reproductive characteristics of the parents of patients with the G 1 ‐trisomy syndrome

    Richard C Juberg, C Robert Goshen et al.•Social Biology•1973

  • Some Epidemiological Aspects of Mongolism

    Bernice H Cohen, Abraham M Lilienfeld et al.•American Journal of Public Health…•1963

  • A Survey of Mongoloid Births in Victoria, Australia, 1942-1957

    R D COLLMANN, Alan Stoller•American Journal of Public Health…•1962

  • Observations on all Births (23,970) in Birmingham, 1947

    J R Gibson, T Mckeown•Journal of Epidemiology and…•1952

  • Incidence of Mongolism and its Diagnosis in the Newborn

    C Carter, Dermod Maccarthy•Journal of Epidemiology and…•1951

Unique citing works7
Citations per year0.1
Citation span1955 - 1982 (28)
Citation velocityhistorical
Highly citedNo
Citation typesNeutral: 1

Tools

Open DOISci-HubOpen Access
Ethnos_APP • Open Source Project • MIT License • Frontend v2.0.0 • Privacy and Cookies • API Documentation: api.ethnos.app/docs • API Source Code: GitHub • DOI: 10.5281/zenodo.17049435 • Frontend Source Code: GitHub • DOI: 10.5281/zenodo.17050053 • cruz.rio.br • Expectantes Misericordiae