Project description:We created a bioinformatics pipeline to detect uniparental disomy from whole genome sequence data of family trios. We use inheritance patterns of single nucleotide polymorphisms to identify uniparental disomy events.

| EGAS00001006154 | EGA

Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15

Project description:Methylation profiles of chr12-16 were generated by meDIP and array hybridisation in 3 cases with maternal uniparental disomy of chromosome 15, and three cases of paternal uniparental disomy of chromosome 15. Comparison of these profiles reveals differentially methylated (imprinted) regions on chromosome 15. Methylated DNA was enriched by immunoprecipitation using antibodies against 5-methylcytosine. meDIP and input DNA was labeled with cy5 and cy3 respectively and hybridized to Nimblegen arrays comprising 2.1 million 50-85mers covering human chromosomes 12-16 at a mean density of ~1 probe per 100bp. Resulting log2 fluorescence ratios correspond to methylation levels. Six samples were analyzed, with technical replicates for each DNA.

2010-06-12 | E-GEOD-22188 | biostudies-arrayexpress

Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy

Project description:This SuperSeries is composed of the SubSeries listed below.

2017-02-25 | GSE77050 | GEO

Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy (RNA-seq)

Project description:We report gene expression profiling in the fission yeast Schizosaccharomyces pombe. We performed high-throughput sequencing of RNA isolated from wild-type, ago1d, mmi1d and dcr1d strains.

2017-02-25 | GSE77047 | GEO

Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy (ChIP-chip)

Project description:Occupancy profiling of lysine 9 dimethylated histone H3 in fission yeast. Occupancy profiling of Psc3, Rec8, Rad21 and Rec11 proteins in fission yeast.

2017-02-25 | GSE77015 | GEO

PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age related clonal hematopoiesis and myeloid neoplasia

Project description:Whole exome sequencing of 5 MDS/MPN patients to identify the target of chromosome 22 acquired uniparental disomy (22aUPD). For samples E4051 and E6523, peripheral blood leucocytes (tumour) and cultured T-cells (germline) were prepared for exome sequencing using the Agilent SureSelect kit (Agilent Technologies, Palo Alto, CA, USA) (Human All Exon 50 Mb) and then sequenced on an Illumina HiSeq 2000 (Illumina, Great Abington, UK) at the Wellcome Trust Centre for Human Genetics, Oxford, UK. For samples ULSAM1182, ULSAM1242 and ULSAM1356, peripheral blood leukocyte DNA only were exome sequenced by SciLifeLab (Stockholm, Sweden).

2019-01-22 | E-MTAB-7491 | biostudies-arrayexpress

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