690 results for ""PhD+2001"+"Professor+of+Bioinformatics"+2012+18000+citations+profile"

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• UK10K_RARE_SIR REL-2012-11-27

  UK10K_RARE_SIR REL-2012-11-27

  Dataset EGAD00001000334

• UK10K_OBESITY_SCOOP REL-2012-11-27

  UK10K_OBESITY_SCOOP REL-2012-11-27

  Dataset EGAD00001000336

• Plasma DNA profile in DNASE1L3 deficiency

  Plasma DNA profile in DNASE1L3 deficiency

  Dataset EGAD00001006216

• REL-2017-07-2012

  HipSci - Primary Immune Deficiency - Genotyping Array - July 2017

  Dataset EGAD00010001358

• Characterization of Leukemic Stem Cells in DNMT3Amut and NPM1mut AMLs

  Trascriptomic profile of FACS-sorted LSCs from diagnostic DNMT3Amut and NPM1mut AML patients using a novel sorting strategy. Briefly, positive selection for GPR56 and a negative selection for NKG2DLigands were used to enrich for LSCs in both CD34+ and CD34- subpopulations. Primary samples were retrospectively collected based on their mutational profile.

  Study EGAS00001006527

• Transcriptome analysis of soft tissue sarcoma

  We characterized mRNA expression profile of soft tissue sarcomas.

  Study EGAS50000001672

• Widespread DNA hypomethylation and differential gene expression in Turner syndrome

  Adults with 45,X monosomy (Turner syndrome) reflect a surviving minority since more than 99% of fetuses with 45,X monosomy die in utero. In adulthood 45,X monosomy is associated with increased morbidity and mortality, although strikingly heterogeneous with some individuals left untouched while others suffer from cardiovascular disease, autoimmune disease and infertility. The present study investigates the leukocyte DNAmethylation profile by using the 450K-Illumina Infinium assay and the leukocyte RNA-expression profile in 45,X monosomy compared with karyotypically normal female and male controls. We present results illustrating that genome wide X-chromosome RNA-expression profile, autosomal DNA-methylation profile, and the X-chromosome methylation profile clearly distinguish Turner syndrome from controls. Our results reveal genome wide hypomethylation with most differentially methylated positions showing a medium level of methylation. Contrary to previous studies, applying a single loci specific analysis at well-defined DNA loci, our results indicate that the hypomethylation extend to repetitive elements. We describe novel candidate genes that could be involved in comorbidity in TS and explain congenital urinary malformations (PRKX), premature ovarian failure (KDM6A), and aortic aneurysm formation (ZFYVE9 and TIMP1)

  Study EGAS00001002190

• Dense_fine_mapping_study_identifies_new_susceptibility_loci_for_primary_biliary_cirrhosis

  2,981 primary biliary cirrhosis (PBC) cases were collected by the UK PBC Consortium and genotyped on the Illumina Immunochip where 2,861 passed quality control. These cases were then compared to a UK population control to identify novel PBC risk loci and fine-map association signals. (Liu & Almarri et al., Nat Genet, 2012)

  Study EGAS00001001837

• ICGC MMML-seq Data Freeze November 2012 transcriptome sequencing

  ICGC MMML-seq Data Freeze November 2012 transcriptome sequencing

  Dataset EGAD00001000281

• Pseudotime_ordering_of_cell_cycle_state

  We will be using G&T method to sequence single cell genome and transcriptome derived from FS13B iPSCs cell line. The cell cycle state of each of the single cells is known. Hence, we will be analysing the genome and transcriptome of single cells from each of the cell cycle state to generate a copy number profile and transcriptome profile per given cell cycle stage: G1, S, G2, S.

  Study EGAS00001003293