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GenomicsPRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age related clonal hematopoiesis and myeloid neoplasia
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 Te...
ORGANISM(S): Homo sapiens 
2019-01-22 | E-MTAB-7491 | biostudies-arrayexpress
UnknownEthnicity and outcome of young breast cancer patients in the United Kingdom: the POSH study.
Not available
S-EPMC3887284 | biostudies-literature
GenomicsExome sequencing in classic Hairy cell leukaemia reveals widespread variation in acquired somatic mutations between individual tumours apart from the signature BRAF V(600)E lesion
Whole exome sequencing of 5 HCLc tumor-germline pairs. Genomic DNA from HCLc tumor cells and T-cells for germline was used. Whole exome enrichment was performed with either Agilent SureSelect (50Mb, samples S3G/T, S5G/T, S9G/T) or Roche Nimblegen (44.1Mb, samples S4G/T and S6G/T). The resulting exom...
ORGANISM(S): Homo sapiens 
2016-02-01 | E-MTAB-4313 | biostudies-arrayexpress
UnknownMapping a gene for rheumatoid arthritis on chromosome 18q21.
Not available
S-EPMC2367616 | biostudies-literature
UnknownInherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
Not available
S-EPMC4302212 | biostudies-literature
UnknownUtility of Polygenic Risk Scores (PRSs) in Predicting Pancreatic Cancer: A Systematic Review and Meta-Analysis of Common-Variant and Mixed Scores with Insights into Rare Variant Analysis.
Not available
S-EPMC11764467 | biostudies-literature
UnknownSphingosine-1-phosphate Signalling in Aneurysmal Subarachnoid Haemorrhage: Basic Science to Clinical Translation.
Not available
S-EPMC10891271 | biostudies-literature
UnknownGenome-wide association of breast cancer: composite likelihood with imputed genotypes.
Not available
S-EPMC3025787 | biostudies-literature
UnknownSupport Vector Machine classifier for estrogen receptor positive and negative early-onset breast cancer.
Not available
S-EPMC3716652 | biostudies-literature
TranscriptomicsGenome-wide association study identifies three novel susceptibility loci for systemic mastocytosis
To identify SNPs predisposing to systemic mastocytosis (SM) we performed a two stage GWAs consisting of two cohorts from the UK and Germany at stage 1 and three cohorts from Spain, Italy and Denmark at stage 2. At both stages, the SM cases were compared with publicly available controls. The control ...
ORGANISM(S): Homo sapiens 
2020-08-03 | E-MTAB-9358 | biostudies-arrayexpress
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