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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...

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Related Experiment Video

Updated: Jul 1, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Functional copy-number alterations in cancer.

Barry S Taylor1, Jordi Barretina, Nicholas D Socci

  • 1Computational Biology Center, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America. copy-number@cbio.mskcc.org

Plos One
|September 12, 2008
PubMed
Summary

This study introduces a computational method to map cancer

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Comparative Lesions Analysis Through a Targeted Sequencing Approach
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Comparative Lesions Analysis Through a Targeted Sequencing Approach

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Last Updated: Jul 1, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
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Published on: February 17, 2017

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

Area of Science:

  • Genomics
  • Cancer Biology
  • Bioinformatics

Background:

  • Cancer's molecular underpinnings necessitate genetic defect characterization.
  • DNA microarrays offer raw data on tumor chromosomal aberrations.
  • Computational analysis is crucial for interpreting genomic data.

Purpose of the Study:

  • To present a computational approach (RAE) for mapping chromosomal alterations in tumors.
  • To assess the functional significance of these alterations in cancer development.
  • To identify novel therapeutic targets in pleomorphic liposarcoma.

Main Methods:

  • Experimental profiling of copy number changes in pleomorphic liposarcoma.
  • Application of the RAE computational approach to analyze genomic data.
  • Identification of candidate oncogenic alterations and their target genes.

Main Results:

  • Successful mapping of chromosomal alterations in pleomorphic liposarcoma.
  • Identification of known and novel genes involved in sarcomagenesis.
  • Discovery of potential therapeutic targets, including adipocyte differentiation mediators.

Conclusions:

  • The RAE methodology provides a statistically robust way to analyze high-resolution genomic data.
  • This approach can assess the extent and function of copy-number alterations in cancer.
  • The findings offer insights into pleomorphic liposarcoma pathogenesis and potential treatments.