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TranscriptomicsPhenotypically concordant and discordant monozygotic twins display different DNA copy number variation profiles (SNP)
The exploration of copy number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic make-up between twins derived from the same zygote represent an extreme example of somatic variation. We studied 19 pairs of monozygotic twins with ei...
ORGANISM(S): Homo sapiens 
2010-06-25 | E-GEOD-9608 | biostudies-arrayexpress
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
UnknownComprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Not available
S-EPMC12592074 | biostudies-literature
UnknownLoss of chromosome Y in regulatory T cells.
Not available
S-EPMC10913415 | biostudies-literature
TranscriptomicsArray-CGH of malignant peripheral nerve sheath tumors (MPNST)
Comparison of copy number changes in MPNST samples against benign neurofibromas in NF1 patients 24 MPNSTs and 3 NF samples were hybridised to the human 32K BAC tiling path array
ORGANISM(S): Homo sapiens 
2010-05-18 | E-GEOD-16041 | biostudies-arrayexpress
UnknownProfound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus.
Not available
S-EPMC4687469 | biostudies-literature
UnknownSize matters: the impact of nucleus size on results from spatial transcriptomics.
Not available
S-EPMC10120157 | biostudies-literature
UnknownLoss of Y chromosome in Alzheimer's patients co-occurs with somatic mutations beyond CHIP drivers.
Not available
S-EPMC12696397 | biostudies-literature
UnknownHigh prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
Not available
S-EPMC9243094 | biostudies-literature
UnknownSignatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer.
Not available
S-EPMC4579338 | biostudies-literature
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