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Related Concept Videos

lncRNA - Long Non-coding RNAs02:39

lncRNA - Long Non-coding RNAs

In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA (lncRNA)...

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Related Experiment Video

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Constructing and Visualizing Models using Mime-based Machine-learning Framework
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Decoding cancer circulating transcriptomic signatures with language models.

Siwei Deng1,2,3,4, Lei Sha5,6,7,8, Yongcheng Jin9,10

  • 1Division of Gastrointestinal Surgery, Peking University First Hospital, Peking University, Beijing, China.

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|July 9, 2026
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GeneLLM, a novel AI model, analyzes RNA sequences in blood for multi-cancer detection. This approach captures more signals than traditional methods, enabling cost-efficient and scalable cancer screening.

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Generating the Transcriptional Regulation View of Transcriptomic Features for Prediction Task and Dark Biomarker Detection on Small Datasets
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Published on: March 1, 2024

Area of Science:

  • Genomics
  • Bioinformatics
  • Artificial Intelligence

Background:

  • Liquid biopsy using plasma cell-free RNA (cfRNA) is promising for multi-cancer detection.
  • Current methods often rely on gene annotations, potentially missing signals from unannotated genomic regions.

Purpose of the Study:

  • To develop a novel method for multi-cancer detection using plasma cfRNA that bypasses gene annotations.
  • To leverage sequence-level information in cfRNA for improved cancer detection.

Main Methods:

  • Developed GeneLLM, a Transformer-based model processing nucleotide sequences of cfRNA reads.
  • The model learns latent pseudo-biomarkers from cfRNA embeddings for classification.
  • Evaluated performance across a multi-centre cohort.

Main Results:

  • GeneLLM achieved high ROC-AUC values (0.9250–0.9962) across multiple cancers.
  • The model maintained comparable performance at one-sixth of the typical sequencing depth.
  • Sequence-level modeling captured diagnostically relevant information beyond annotation-dependent approaches.

Conclusions:

  • Plasma cfRNA sequence-level modeling offers a powerful alternative to annotation-dependent methods.
  • GeneLLM enables more cost-efficient and scalable cancer screening.
  • This approach unlocks signals from the 'transcriptomic dark matter'.