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

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• Whole blood transcriptomics analysis in Antiphospholipid syndrome in patients with Systemic Lupus Erythematosus

  We analyzed whole-blood RNA-sequencing data from 299 SLE patients (108 SLE-aPL-positive, including 67 SLE-APS; 191 SLE-aPL-negative) and 72 matched healthy controls (HC). Pathway enrichment analysis, unsupervised WGCNA analysis and machine learning were applied to distinguish disease endotypes. Deconvolution analysis was performed to characterize the peripheral blood immune cell profile.

  Study EGAS00001007750

• Reconstruction of human terminal erythroid differentiation cell at single cell level

  Terminal erythroid differentiation cells(GYPA+ cells) were isolated from neonate cord blood(CB) and adult bowe marrow(BM). single cell transcriptome sequencing library was constructed by 10X genomics system and sequenced by Illumina X ten platform. Sequencing data was analyzed to profile dynamic expression genes and centre regulators during terminal erythroid differentiation stage within CB and BM.

  Study EGAS00001003114

• Molecular analysis of giant cell lesions

  Giant cell lesions of the jaws are aggressive proliferative conditions that affect young and adult patients. The genetic profile of the tumour has not been established yet. In this project we performed whole exome sequencing of 18 samples and RNAseq (n=6) of giant cell lesions of the jaws. All the tumours are sporadic and only non-syndromic patients were included.

  Study EGAS00001002910

• Transcriptome profiling for Korean Diffuse Gastric cancers

  Gastric cancers in young patients are aggressive and predominantly of diffuse histology. Also, they are more frequent in female. To identify transcriptome profile in this unique subset of gastric cancers, RNA-seq analyses were performed using frozen cancer tissue. Adjacent normal tissue of the same patients were used in differently expressed gene selection and fusion gene prediction.

  Study EGAS00001001859

• Single-cell transcriptome sequencing of regulatory and conventional T cells in breast cancer patients and healthy individuals.

  Identification of tumor-specific effects on gene expression profile of regulatory T cells and conventional T cells in humans, investigation of the clonal origin of regulatory T cells and impact analysis of tumor-specific conversion of conventional T cells into induced regulatory T cells on the peripheral regulatory T cell repertoire in humans.

  Study EGAS00001002933

• Single_cell_resolution_of_human_CNV_body_map

  12 tissues from the warm autopsy are selected for this project. Using 10X Chromium technology we will generate ~1000 single cell/nulei genomic libraries per tissue. Each tissue will be whole genome sequenced (~2 lanes per 1000 cells) on hiseq X10. per single cell we will generate CNV profile and we investigate the level of genomic heterogenity with in tissue and across different tissues.

  Study EGAS00001003162

• Development of molecular targeted therapy for small cell lung cancer by comprehensive genome analysis

  Aims: Identifying new therapeutic targets of small cell lung cancer (SCLC), genome-wide mutation analysis has been performed. Methods: Genomic DNA was extracted from formalin-fixed or methanol-fixed tissue samples. 71 Mb of DNA fragments containing whole coding exons were concentrated using SureSelect Human All Exon V4+UTRs Kit (Agilent Technologies) followed by 100-bp paired end sequencing by HiSeq 2000 (Illumina). Participants/Materials: 51 of 1042 cases of pathologically diagnosed small seen lung cancer that were registered to National Cancer Hospital East Lung Cancer Database in 1992-2012, and which surgically resected or biopsy samples were suitable for DNA extraction for further analyses.

  Study JGAS000037

• UK10K_COHORT_TWINSUK REL-2012-06-02: Phenotype data

  UK10K_COHORT_TWINSUK REL-2012-06-02: Phenotype data

  Dataset EGAD00001000790

• UK10K_NEURO_MUIR REL-2012-11-27

  UK10K_NEURO_MUIR REL-2012-11-27

  Dataset EGAD00001000322

• UK10K_NEURO_IOP_COLLIER REL-2012-11-27

  UK10K_NEURO_IOP_COLLIER REL-2012-11-27

  Dataset EGAD00001000321

• UK10K_NEURO_ASD_FI REL-2012-11-27

  UK10K_NEURO_ASD_FI REL-2012-11-27

  Dataset EGAD00001000311

• UK10K_NEURO_ASD_BIONED REL-2012-11-27

  UK10K_NEURO_ASD_BIONED REL-2012-11-27

  Dataset EGAD00001000310

• UK10K_OBESITY_GS REL-2012-11-27

  UK10K_OBESITY_GS REL-2012-11-27

  Dataset EGAD00001000309

• UK10K_RARE_COLOBOMA REL-2012-11-27

  UK10K_RARE_COLOBOMA REL-2012-11-27

  Dataset EGAD00001000307

• UK10K_NEURO_ABERDEEN REL-2012-11-27

  UK10K_NEURO_ABERDEEN REL-2012-11-27

  Dataset EGAD00001000315

• UK10K_NEURO_ASD_TAMPERE REL-2012-11-27

  UK10K_NEURO_ASD_TAMPERE REL-2012-11-27

  Dataset EGAD00001000314

• UK10K_RARE_NEUROMUSCULAR REL-2012-11-27

  UK10K_RARE_NEUROMUSCULAR REL-2012-11-27

  Dataset EGAD00001000298

• UK10K_RARE_FIND REL-2012-11-27

  UK10K_RARE_FIND REL-2012-11-27

  Dataset EGAD00001000297

• UK10K_RARE_CILIOPATHIES REL-2012-11-27

  UK10K_RARE_CILIOPATHIES REL-2012-11-27

  Dataset EGAD00001000296

• UK10K_RARE_HYPERCHOL REL-2012-11-27

  UK10K_RARE_HYPERCHOL REL-2012-11-27

  Dataset EGAD00001000295

• UK10K_NEURO_ASD_SKUSE REL-2012-11-27

  UK10K_NEURO_ASD_SKUSE REL-2012-11-27

  Dataset EGAD00001000313

• UK10K_NEURO_ASD_MGAS REL-2012-11-27

  UK10K_NEURO_ASD_MGAS REL-2012-11-27

  Dataset EGAD00001000312

• UK10K_RARE_CHD REL-2012-11-27

  UK10K_RARE_CHD REL-2012-11-27

  Dataset EGAD00001000294

• UK10K_NEURO_GURLING REL-2012-11-27

  UK10K_NEURO_GURLING REL-2012-11-27

  Dataset EGAD00001000319

• UK10K_NEURO_ASD_GALLAGHER REL-2012-11-27

  UK10K_NEURO_ASD_GALLAGHER REL-2012-11-27

  Dataset EGAD00001000316