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TranscriptomicsGenotyping of human diagnosic AML samples reveals frequent partial uniparental disomy due to somatic recombination in acute myeloid leukemias
Genome-wide analysis of single nucleotide polymorphisms in 64 acute myeloid leukemias has revealed that 20% exhibited large regions of homozygosity that could not be accounted for by visible chromosomal abnormalities in the karyotype. Further analysis confirmed that these patterns were due to partia...
ORGANISM(S): Homo sapiens 
2008-06-15 | E-GEOD-7490 | biostudies-arrayexpress
TranscriptomicsGenotyping of human AMP patients using 27 pairs of diagnostic and relapsed AML samples
Relapse is the commonest cause of death in acute myeloid leukaemia (AML), but the mechanisms leading to relapse are unclear. Recently, acquisition of segmental uniparental disomy (UPD) by mitotic recombination (MR) has been reported in 15-20% of AML samples at diagnosis using whole genome single nuc...
ORGANISM(S): Homo sapiens 
2008-06-15 | E-GEOD-7210 | biostudies-arrayexpress
GenomicsGenome-wide study of DNA methylation in AML by MeDIP-seq
Methylated DNA immunoprecipitation followed by high-throughput sequencing (MeDIP-seq) has the potential to identify changes in DNA methylation important in cancer development. In order to understand the role of epigenetic modulation in the development of acute myeloid leukemia (AML) we have applied ...
ORGANISM(S): Homo sapiens 
2012-04-02 | E-GEOD-28314 | biostudies-arrayexpress
GenomicsGlobal DNA methylation study of trisomy 8 AML
We report the application of methylated DNA immunoprecipitation followed by next-generation sequencing to trisomy 8 AML. Through a global study and quantifying the methylation signals, we demonstrated a characteristic DNA methylation distribution for trisomy 8 indicating the impact of the hypermethy...
ORGANISM(S): Homo sapiens 
2014-02-13 | E-GEOD-38483 | biostudies-arrayexpress
TranscriptomicsGenotyping of human basal cell carcinomas unveils uniparental disomy as a key domatic event.
Affymetrix 10K SNP mapping arrays were used to profile 14 basal cell carcinomas (BCCs) with matched blood DNA samples. Loss of heterozygosity (LOH) and copy number abnormality (CNA) profiles were derived from each tumour-blood pair. Experiment Overall Design: 14 BCC/Blood pairs were used in this stu...
ORGANISM(S): Homo sapiens 
2008-06-12 | E-GEOD-2959 | biostudies-arrayexpress
TranscriptomicsIdentification of novel sub-microscopic copy number aberrations in adult acute myeloid leukemia
In this study we have screened 56 pairs of AML samples for cryptic copy number aberration and loss-of-heterozygosity. We have identified 80 CNAs among 56 patient samples; 21 containing <5 genes while 11 contained or were present within a single gene. Four (7%) patients carried gains at sub-telomeres...
ORGANISM(S): Homo sapiens 
2012-03-08 | E-GEOD-20672 | biostudies-arrayexpress
UnknownThe evolving genetic landscape of telomere biology disorder dyskeratosis congenita
Not available
S-SCDT-10_1038-S44321-024-00118-X | biostudies-other
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