Chromothripsis and Human Disease: Piecing Together the Shattering Process

Chromothripsis and Human Disease: Piecing Together the Shattering Process

The unprecedented resolution of high-throughput genomics has enabled the recent discovery of a phenomenon by which specific regions of the genome are shattered and then stitched together via a single devastating event, referred to as chromothripsis. Potential mechanisms governing this process are no...

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Veröffentlicht in:Cell 2012-01, Vol.148 (1-2), p.29-32
Hauptverfasser: Maher, Christopher A., Wilson, Richard K.
Format: Artikel
Sprache:eng
Schlagworte:
Chromosome Aberrations
genome
Genome, Human
genomics
High-Throughput Nucleotide Sequencing
Human Development
human diseases
Humans
Mutation
Neoplasms - genetics
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Beschreibung
Zusammenfassung:The unprecedented resolution of high-throughput genomics has enabled the recent discovery of a phenomenon by which specific regions of the genome are shattered and then stitched together via a single devastating event, referred to as chromothripsis. Potential mechanisms governing this process are now emerging, with implications for our understanding of the role of genomic rearrangements in development and disease.
ISSN:0092-8674
1097-4172
DOI:10.1016/j.cell.2012.01.006