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Related Concept Videos

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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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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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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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Author Spotlight: Integrating Organoid Models with Single-Cell and Spatial Transcriptomics Technologies
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Joint inference of clonal structure using single-cell genome and transcriptome sequencing data.

Xiangqi Bai1, Zhana Duren2, Lin Wan3,4

  • 1Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.

NAR Genomics and Bioinformatics
|March 15, 2024
PubMed
Summary
This summary is machine-generated.

A new computational framework, CCNMF, integrates single-cell genome (scDNA) and transcriptome (scRNA) data to identify cell clones. This method links copy number and gene expression, revealing clonal structures in complex biological samples.

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Area of Science:

  • Genomics
  • Transcriptomics
  • Computational Biology

Background:

  • High-throughput single-cell sequencing (scDNA and scRNA) allows cell-resolved tissue clone investigation.
  • Integrating heterogeneous scRNA and scDNA data from the same specimen for clonal analysis remains a challenge.

Purpose of the Study:

  • To develop a computational framework (CCNMF) for joint inference of clonal structure from matched scDNA and scRNA data.
  • To couple multi-omics single cells by linking copy number and gene expression profiles.

Main Methods:

  • Developed Coupled-Clone Non-negative Matrix Factorization (CCNMF).
  • CCNMF links scDNA copy number alterations with scRNA gene expression profiles.
  • Validated using simulated data and real-world cancer samples (ovarian, gastric).

Main Results:

  • CCNMF successfully resolved coexisting clones by correlating clonal genomes and transcriptomes.
  • Demonstrated high accuracy and robustness in both simulated and real-world datasets.
  • Enabled simultaneous resolution of genomic and transcriptomic clonal architecture.

Conclusions:

  • CCNMF is a powerful tool for integrating multi-omics single-cell data.
  • Facilitates understanding of gene expression changes alongside clonal genome alterations.
  • Sheds light on subclone genomic differences contributing to tumor evolution.