FCDGC: Discussing Transcriptomics and Machine Learning Strategies to Reveal Splicing Defects in Rare Diseases

Nov 14, 2023 · 1m 27s
FCDGC: Discussing Transcriptomics and Machine Learning Strategies to Reveal Splicing Defects in Rare Diseases
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New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the journal Briefings in Bioinformatics on August 14, 2023,...

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New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the journal Briefings in Bioinformatics on August 14, 2023, titled "Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis."

Read the paper here: https://academic.oup.com/bib/article/24/5/bbad284/7242261?login=false

Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org
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