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Related Concept Videos

Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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Genome Annotation and Assembly03:36

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The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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Multi-species Conserved Sequences02:51

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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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RNA-seq03:21

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RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
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Updated: Jun 23, 2025

Novel Sequence Discovery by Subtractive Genomics
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Novel Sequence Discovery by Subtractive Genomics

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Contrastive pre-training for sequence based genomics models.

Ksenia Sokolova, Kathleen M Chen, Olga Troyanskaya

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    Summary
    This summary is machine-generated.

    We developed cGen, a new unsupervised method to pre-train deep learning models for genomics. This approach improves performance in tasks like gene expression prediction, especially when data is limited.

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    Area of Science:

    • Genomics
    • Deep Learning
    • Bioinformatics

    Background:

    • Deep learning is increasingly used in genomics.
    • Complex models require substantial data or strategic initialization for optimal performance.

    Purpose of the Study:

    • Introduce cGen, a novel unsupervised, model-agnostic contrastive pre-training method for sequence-based models.
    • Improve deep learning model performance in genomics, particularly in data-scarce scenarios.

    Main Methods:

    • cGen uses unsupervised contrastive pre-training to learn intrinsic genome features.
    • It initializes model weights, reducing the need for large datasets.
    • The method is model-agnostic and makes no assumptions about genomic structure.

    Main Results:

    • Embeddings from unsupervised cGen are informative for gene expression prediction.
    • Learned sequence features enable meaningful clustering.
    • cGen enhances performance in chromatin profiling prediction and gene expression tasks.

    Conclusions:

    • cGen improves deep learning model performance in genomics without architecture modification.
    • This method is particularly beneficial for applications with limited data availability.
    • Unsupervised pre-training offers a powerful strategy for advancing genomic deep learning.