The elusive evidence for chromothripsis.
Bottom Line: Lastly, we provide an algorithm to find a sequence of progressive rearrangements that explains all observed breakpoints from a proposed chromothripsis chromosome.Thus, the proposed signature cannot be considered a sufficient proof for this extraordinary hypothesis.Great caution should be exercised when labeling complex rearrangements as chromothripsis from genome hybridization and sequencing experiments.
Affiliation: Bioinformatics and Systems Biology Program, University of California, San Diego, CA, USA.Show MeSH
Related in: MedlinePlus
Mentions: We then applied the simulation method to the breakpoints of this chromosome and recorded the results as we did in Figure 3b. The resulting distribution of breakpoints and copy number states in Figure 5 is not different from Figure 3b even though we know the chromosome was rearranged progressively. This result casts doubt on the usefulness of the simulation method to detect chromothripsis. Rather than distinguishing between chromosomes that shattered and chromosomes that were rearranged progressively, it always reports that chromosomes with many complex rearrangements and few copy number states are the product of chromothripsis even when they are not.
Affiliation: Bioinformatics and Systems Biology Program, University of California, San Diego, CA, USA.