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TranscriptomicsChromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring [case 3]
Chromothripsis represents an extreme class of complex chromosome rearrangements (CCRs) with major effects on chromosomal architecture. Although recent studies have associated chromothripsis with congenital abnormalities, the incidence and pathogenic effects of this phenomenon require further investi...
ORGANISM(S): Homo sapiens 
2015-01-31 | E-GEOD-65453 | biostudies-arrayexpress
TranscriptomicsChromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring [case 1]
Chromothripsis represents an extreme class of complex chromosome rearrangements (CCRs) with major effects on chromosomal architecture. Although recent studies have associated chromothripsis with congenital abnormalities, the incidence and pathogenic effects of this phenomenon require further investi...
ORGANISM(S): Homo sapiens 
2015-01-31 | E-GEOD-65451 | biostudies-arrayexpress
TranscriptomicsChromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring [case 2]
Chromothripsis represents an extreme class of complex chromosome rearrangements (CCRs) with major effects on chromosomal architecture. Although recent studies have associated chromothripsis with congenital abnormalities, the incidence and pathogenic effects of this phenomenon require further investi...
ORGANISM(S): Homo sapiens 
2015-01-31 | E-GEOD-65452 | biostudies-arrayexpress
TranscriptomicsAnalysis of copy number changes primary and metastatic colorectal cancer samples
Structural rearrangements form a major class of somatic variation in cancer genomes. Local chromosome shattering, termed chromothripsis, is a mechanism proposed to be the cause of clustered chromosomal rearrangements and was recently described to occur in a small percentage of tumors. The significan...
ORGANISM(S): Homo sapiens 
2011-10-11 | E-GEOD-32711 | biostudies-arrayexpress
TranscriptomicsAnalysis of copy number changes and complex rearrangements in patients with congenital abnormalities
Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyzed the genomes of ten patients with congenital disease that were preselected to carry complex chromosomal rearrangements (CCRs) with more than two breakpoints. The rearrangements disp...
ORGANISM(S): Homo sapiens 
2012-05-10 | E-GEOD-37906 | biostudies-arrayexpress
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