Related Experiment Video
Updated: Feb 17, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
Identifying simultaneous rearrangements in cancer genomes
Layla Oesper1, Simone Dantas2, Benjamin J Raphael3
1Department of Computer Science, Carleton College, Northfield, MN, USA.
Cancer genomes may acquire mutations simultaneously through catastrophic events like chromothripsis. We introduce the H/T alternating fraction, a new signature to identify simultaneous mutations in cancer evolution.
Area of Science:
- Genomics
- Cancer Biology
- Bioinformatics
Background:
- Cancer genomes traditionally accumulate mutations sequentially.
- Recent evidence suggests simultaneous mutations via catastrophic events like chromothripsis.
- Existing chromothripsis signatures may not always be present.
Purpose of the Study:
- To rigorously analyze the 'ability to walk the derivative chromosome' signature for chromothripsis.
- To quantify conditions under which this signature is present.
- To propose and evaluate the H/T alternating fraction as an improved signature.
Main Methods:
- Formulation and mathematical analysis of the 'ability to walk the derivative chromosome' signature.
- Development and application of the H/T alternating fraction.
- Analysis of simulated and real cancer genomic data.
Main Results:
- The original 'ability to walk the derivative chromosome' signature may not always be detectable.
- The H/T alternating fraction provides a precise quantification of signature presence.
- The H/T alternating fraction shows utility in distinguishing simultaneous from sequential mutation acquisition.
Conclusions:
- The H/T alternating fraction offers a robust method for identifying chromothripsis.
- This new signature aids in differentiating cancer evolution models.
- An implementation of the H/T alternating fraction is publicly available.
More Related Videos
09:49Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
13:24Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
Related Concept Videos
Cancers Originate from Somatic Mutations in a Single Cell
Gene Conversion
Conservative Site-specific Recombination and Phase Variation
The recognition sites for Cre recombinase called LoxP...