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TranscriptomicsSomatic mosaicism for copy number variation in differentiated human tissues
Genetic variation is responsible for the generation of phenotypic diversity, including susceptibility to disease. Two major types of variation are known: single nucleotide polymorphisms (SNPs) and a more recently discovered structural variation, involving changes in copy number (CNVs) of kilobase- t...
ORGANISM(S): Homo sapiens 
2008-09-16 | E-GEOD-9598 | biostudies-arrayexpress
GenomicsGNAS-mosaicism
Parental mosaicism at GNAS gene
PRJEB56694 | ENA
TranscriptomicsSomatic copy-number mosaicism in human skin revealed by induced pluripotent stem cells (sequencing)
Reprogramming human somatic cells into induced pluripotent stem cells (iPSC) has been suspected of causing de novo copy number variations (CNVs). To explore this issue, we performed a whole-genome and transcriptome analysis of 20 human iPSC lines derived from primary skin fibroblasts of 7 individual...
ORGANISM(S): Homo sapiens 
2012-10-31 | E-GEOD-41716 | biostudies-arrayexpress
GenomicsChromosome X Mosaicism Methylation Study
Chromosome X Mosaicism Methylation Study
PRJNA320447 | ENA
GenomicsMcCune Mosaicism
Mosaicism in fibrous dysplasia/McCune-Albright Syndrome (FD/MAS): choosing the best tissue and technique
PRJEB71103 | ENA
UnknownGNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.
Not available
S-EPMC10957341 | biostudies-literature
TranscriptomicsConstitutional Trisomy 8 Mosaicism as a Model for Epigenetic Studies of Aneuploidy (microRNA)
To increase our understanding of epigenetic patterns associated with aneuploidy we used constitutional trisomy 8 mosaicism as a model, enabling analyses of single cell clones, harboring either trisomy or disomy 8, from the same patient. We profiled gene and miRNA expression as well as genome-wide an...
ORGANISM(S): Homo sapiens 
2012-12-01 | E-GEOD-40319 | biostudies-arrayexpress
TranscriptomicsConstitutional Trisomy 8 Mosaicism as a Model for Epigenetic Studies of Aneuploidy (gene expression)
To increase our understanding of epigenetic patterns associated with aneuploidy we used constitutional trisomy 8 mosaicism as a model, enabling analyses of single cell clones, harboring either trisomy or disomy 8, from the same patient. We profiled gene and miRNA expression as well as genome-wide an...
ORGANISM(S): Homo sapiens 
2012-12-01 | E-GEOD-40320 | biostudies-arrayexpress
TranscriptomicsConstitutional Trisomy 8 Mosaicism as a Model for Epigenetic Studies of Aneuploidy (DNA methylation)
To increase our understanding of epigenetic patterns associated with aneuploidy we used constitutional trisomy 8 mosaicism as a model, enabling analyses of single cell clones, harboring either trisomy or disomy 8, from the same patient. We profiled gene and miRNA expression as well as genome-wide an...
ORGANISM(S): Homo sapiens 
2012-12-01 | E-GEOD-40317 | biostudies-arrayexpress
UnknownAcne Syndromes and Mosaicism.
Not available
S-EPMC8615598 | biostudies-literature
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