3446 results for "*geneti*"

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• Department of Human Genetics, Radboud University Nijmegen Medical Centre, Data Access Committee

  Dac EGAC00001000076

• “Human population genetics” team (Muséum national d’Histoire naturelle, Paris, France)

  Dac EGAC00001000147

• UPF - Evolutionary Population Genetics lab Data Access Committee

  Dac EGAC00001000244

• Molecular and Population Genetics (MPG) research at ICR DAC

  Dac EGAC00001000304

• English Longitudinal Study for Ageing (ELSA) Genetic Data Access

  Dac EGAC00001000270

• Bioscientia Molecular Genetics DAC

  Dac EGAC00001000271

• Molecular and Population Genetics (MPG) research at ICR DAC agreement

  Dac EGAC00001000303

• Molecular and Population Genetics (MPG) research at ICR DAC and POLA DAC

  Dac EGAC00001000328

• VIB Department of Molecular Genetics DAC AMG and NG

  Dac EGAC00001000395

• Human Genetics 5, Genome Institute of Singapore.

  Dac EGAC00001000412

• DAC for study Population Structure and Genetic Diversity in Argentinean populations

  Dac EGAC00001000426

• Data Access Committee of National Institute of Genetics of Japan

  Dac EGAC00001000448

• Genetic predisposition to cancer, University of Tampere

  Dac EGAC00001000488

• Pacific Islands RHD Genetics Network Data Access Committee

  Dac EGAC00001000506

• Ludwig Center for Cancer Genetics and Therapeutics at Johns Hopkins

  Dac EGAC00001000507

• DAC for high resolution genomic data generated by the Gisselsson Group at the Department of Clinical Genetics, Lund University.

  Dac EGAC00001000534

• Simons Genome Diversity Project Data Access Committee

  Dac EGAC00001000541

• Epigenetic dysregulation in autism spectrum disorder

  Dac EGAC00001000547

• Clinical Genetics Pediatric Brain Tumor (CGPBT)-group at Gothenburg University.

  Dac EGAC00001000572

• MeDALL Epigenetics group

  Dac EGAC00001000578

• Dr. Fatima Mechta-Grigoriou, PhD, DR1 Head of Stress and Cancer Laboratory Deputy Director Genetic and Biology of Cancer Dpt Institut Curie - Inserm U830

  Dac EGAC00001000581

• MeDIP-seq data in the Peri/postnatal Epigenetics Twins Study (PETS)

  Dac EGAC00001000596

• Cancer Pharmacogenetics Group at King's College London

  Dac EGAC00001000795

• DAC for Institute of Human Genetics, Bonn, AGA Project

  Dac EGAC00001000831

• DAC monitoring the usage of ultra-low-coverage MinION nanopore sequencing results of NA12877 and NA12878 from NIGMS Human Genetic Cell Repository.

  Dac EGAC00001000876

• DAC for present-day Central Asia genotype data at the Centre for GeoGenetics, Natural History Museum of Denmark.

  Dac EGAC00001000894

• DAC for the project on epigenetic dysregulation in tuberculosis

  Dac EGAC00001000909

• Laboratory of Medical Genetics - Department of Precision Medicine

  Dac EGAC00001000936

• DAC for Integrated Genomic, Epigenetic, and Expression Analyses of Ovarian Cancer Cell Lines

  Dac EGAC00001001101

• Genetic Skin Disease Group

  Dac EGAC00001001126

• South Asia Rheumatic Heart Disease Genetics Network Data Access Committee

  Dac EGAC00001001161

• Control iPSC lines with clinically annotated genetic variants for versatile multi-lineage differentiation Committee

  Dac EGAC00001001226

• Control iPSC lines with clinically annotated genetic variants for versatile multi-lineage differentiation Committee (part II)

  Dac EGAC00001001332

• Genetics and transcriptomes of pediatric B cell precursor leukemia with gain of chromosome 21

  Dac EGAC00001001348

• TGA GENETICS DATA ACCESS COMMITTEE

  Dac EGAC00001001456

• Center for Medical Genetics

  Dac EGAC00001001466

• DAC for Sex-biased patterns shaped the genetic history of Roma

  Dac EGAC00001001477

• Data Access Committee LUMC-KFT pharmacogenetics

  Dac EGAC00001001486

• Center for Medical Genetics Ghent

  Dac EGAC00001001507

• Cologne University Hospital, Institute of Human Genetics, Pathomechanisms of Rare Kidney Diseases Research Group DAC

  Dac EGAC00001001549

• Genetics and transcriptomics of human acute erythroid leukemia

  Dac EGAC00001001553

• DAC for Phylogenetic reconstruction of breast cancer

  Dac EGAC00001001572

• Data Access Commitee for study Fine-Scale Genomic Analyses Of Admixed Individuals Reveal Unrecognized Genetic Ancestry Components In Argentina

  Dac EGAC00001001634

• VIB CCB Translational Genetics Data Access Commitee

  Dac EGAC00001001761

• VIB CCB Translational Genetics Data Access Commitee

  Dac EGAC00001001808

• Genetic structure of Norway Data Access Committee

  Dac EGAC00001001827

• Genetic makeup of agnospheres.

  Dac EGAC00001001846

• Center for Medical Genetics Data Access Commitee

  Dac EGAC00001001892

• VIB CCB Translational Genetics Data Access Commitee

  Dac EGAC00001001928

• VIB CCB Translational Genetics Data Access Committee

  Dac EGAC00001001975

• VIB CCB Translational Genetics Data Access Committee

  Dac EGAC00001002006

• International Genetics of Parkinson Disease Progression (IGPP) Consortium GWSS Summary Results Data Access Committee

  Dac EGAC00001002012

• Center of Medical Genetics Ghent

  Dac EGAC00001002063

• Data Access Committee for study Genetics of Preeclampsia at High Altitudes

  Dac EGAC00001002097

• Center of Medical Genetics Ghent

  Dac EGAC00001002102

• University College London, Department of Genetics and Genomic Medicine (UCL GGM)

  Dac EGAC00001002121

• Evolutionary predictability of genetic versus non genetic resistance to anticancer drugs in melanoma

  Dac EGAC00001002126

• VIB CCB Translational Genetics Data Access Committee

  Dac EGAC00001002157

• MRC Institute of Genetics and Cancer Data Access Committee

  Dac EGAC00001002163

• Department of Clinical Genetics of Maastricht University Medical Center

  Dac EGAC00001002259

• Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland

  Dac EGAC00001002346

• DAC Genetic variability in the glucocorticoid receptor NR3C1

  Dac EGAC00001002382

• Center for Medical Genetics Ghent

  Dac EGAC00001002384

• Genetics of acne consortium

  Dac EGAC00001002400

• Lupus Genetic Risk Variant

  Dac EGAC00001002514

• Director of the Institute of Reproductive Genetics, Münster, Germany

  Dac EGAC00001002589

• UEA Genetics of Cholesteatoma DAC

  Dac EGAC00001002612

• Pharmacogenetics Team

  Dac EGAC00001002745

• University College London, Department of Genetics and Genomic Medicine (UCL GGM)

  Dac EGAC00001002813

• DLSM Epigenetics DAC

  Dac EGAC00001002822

• Differential Presence of Exons in Cell-Free DNA (NIMGenetics/IIS-FJD)

  Dac EGAC00001002885

• Center for Medical Genetics Ghent

  Dac EGAC00001002909

• VIB CCB Translational Genetics Data Access Commitee

  Dac EGAC00001002959

• COVID-19 Vaccine Genetics DAC

  Dac EGAC00001003037

• Data Access Commitee LUMC-KFT Pharmacogenetics

  Dac EGAC00001003046

• Southern African Genetic History

  Dac EGAC00001003149

• Center for Medical Genetics Ghent

  Dac EGAC00001003264

• Oxidative phosphorylation is a key ontogenetic feature of monocyte immunometabolism promoting myeloid differentiation after birth

  Dac EGAC00001003420

• Single cell transcriptomic landscape of pediatric B-cell acute lymphoblastic leukemia: dissection of transcriptional heterogeneity and B-cell developmental state

  Introduction: Genomic analyses of bulk ALL samples have improved our understanding of the genetic basis and risk stratification of B-ALL, but do not directly examine intratumor heterogeneity or enable inference of leukemia developmental state and cell of origin. Methods: We profiled 89 B-ALL samples by single-cell RNA-seq (scRNA-seq) (10X Genomics 5’v2) and compared them to a scRNA-seq reference map of normal human B-cell development. Results: Analysis of heterogeneity of inferred DNA copy number alterations at single cell level showed that aneuploid ALL with near haploidy and hyperdiploid harbor chromosomal losses or gains in all blasts, consistent with early, synchronous origin rather than sequential accumulation. Intra-sample heterogeneity was driven by five gene expression signatures: cell cycle, metabolism, differentiation, inflammation, refining leukemic subtyping. An atlas of B cell development was established to map B-ALL samples to specific developmental states. Hyperdiploid samples resembled pro-B cells, while MEF2D-r and TCF3::PBX1 showed high pre-B abundance. Patients with high early lymphoid abundance had poorer outcomes. Conclusions: Understanding variation in transcriptional programs and developmental states of B-ALL blasts by sc transcriptome refines existing clinical and genomic classifications and provides novel prognostic markers.

  Study EGAS00001007512

• EGAD00010000807

  Illumina HumanCoreExome genotyping data from the British Society for Surgery of the Hand Genetics of Dupuytren’s Disease consortium (BSSH-GODD consortium) collection

  Dataset EGAD00010000807

• EGAD00010000831

  BLUEPRINT EpiMatch: harnessing epigenetics for haematopoietic stem cell transplantation

  Dataset EGAD00010000831

• Genetic and epigenetic characterization of adenoid cystic carcinoma

  Whole genome sequences of ACC primagrafts, Histone modification maps and transcription factor binding maps for ACC primagrafts and primary tumors. Processed ChIP-seq data is available on GEO under accession number GSE76465.

  Dataset EGAD00001001662

• Low coverage whole-genome sequencing of samples from the Cretan Greek isolate collection HELIC-MANOLIS

  Whole-genome sequencing at 1x of samples from the Cretan Greek isolate collection HELIC-MANOLIS. Genome-wide association studies of complex traits have been successful in identifying common variant associations, but a substantial heritability gap remains. The field of complex trait genetics is shifting towards the study of low frequency and rare variants, which are hypothesised to have larger effects. The study of these variants can be empowered by focusing on isolated populations, in which rare variants may have increased in frequency and linkage disequilibrium tends to be extended. This work focuses on an isolated population from Crete, Greece. Sequencing is very efficient in isolated populations, because variants found in a few samples will be shared by others in extended haplotype contexts, supporting accurate imputation.

  Dataset EGAD00001001637

• EGAD00010000536

  21 unlinked autosomal microsatellite loci for 30 Central Asian populations

  Dataset EGAD00010000536

• EGAD00010000538

  28 unlinked autosomal microsatellite loci for 20 African and 4 philippine populations

  Dataset EGAD00010000538

• PAS Pedigrees: Identification of novel genetic variants contributing to cardiovascular disease in pedigrees with premature atherosclerosis.

  PAS Pedigrees: Identification of novel genetic variants contributing to cardiovascular disease in pedigrees with premature atherosclerosis.

  Dataset EGAD00001000017

• Investigation of the genetic basis of the rare syndrome Post-Transfusion Purpura (PTP)

  Investigation of the genetic basis of the rare syndrome Post-Transfusion Purpura (PTP)

  Dataset EGAD00001000026

• Genetic variation in Kuusamo

  Genetic variation in Kuusamo

  Dataset EGAD00001000055

• Screening for human epigenetic variation at CpG islands

  Screening for human epigenetic variation at CpG islands

  Dataset EGAD00001000059

• Unraveling the genetic basis of a collagen migration defect in patients with a combined platelet dysfunction and reduced bone density

  Unraveling the genetic basis of a collagen migration defect in patients with a combined platelet dysfunction and reduced bone density

  Dataset EGAD00001000109

• Whole Genome Sequencing accompanying Genetic landscape of pediatric Rhabdomyosarcoma

  Whole Genome Sequencing accompanying Genetic landscape of pediatric Rhabdomyosarcoma.

  Dataset EGAD00001000164

• A common single nucleotide variant in T is strongly associated with chordoma

  Chordoma is a rare malignant bone tumor that expresses the transcription factor T. We conducted an association study of 40 patients with chordoma and 358 ancestry-matched, unaffected individuals with replication in an independent cohort. Whole-exome and Sanger sequencing of T exons reveals a strong risk association ( allelic odds ratio (OR) = 4.9, P = 3.3x10-11, CI= 2.9-8.1) with the common (minor allelic frequency >5%) non-synonymous SNP rs2305089 in chordoma, which is exceptional in cancer genetics.

  Dataset EGAD00001000226

• Genetic mechanisms of resistance to chemotherapy in breast cancer

  Resistance towards chemotherapy is one of the main causes of treatment failure and deathamong breast cancer patients.The main objective of this project is toidentify genetic mechanisms causing some breast cancer patients not torespond to a particluar type of chemotherapy (epirubicin) while otherpatients respond very well to the same treatment. In the project wewill perform genome / exome sequencing of a selection of breast cancerpatients (n=30). These patients are drawn from a cohort where allpatients have recieved treatment with epirubicin monotherapy before surgical removal of alocally advanced breast tumour, and where all patients have beensubjected to objective evaluation of the response to thetherapy. Subsequent to sequencing, we will analyse the data andcompare with the clinical data for each patient (object response totherapy). The main aim being to identify mutations that are associatedwith resistance to epirubicin. Identification of mutations with strongpredictive value, may have a direct impact on cancer treatment sinceit opens the possibility for genetic testing of a tumour, and desicionon which drug is likely to work best, prior to treatment start.

  Dataset EGAD00001000264

• Whole genome analyses of the childhood cancer neuroblastoma

  Neuroblastomas are tumors of peripheral sympathetic neurons and are the most common solid tumor in children. To determine the genetic basis for neuroblastoma we performed whole-genome sequencing (6 cases), exome sequencing (16 cases), genome-wide rearrangement analyses (32 cases), and targeted analyses of specific genomic loci (40 cases) using massively parallel sequencing. On average each tumor had 19 somatic alterations in coding genes (range, 3-70). Among genes not previously known to be involved in neuroblastoma, chromosomal deletions and sequence alterations of chromatin remodeling genes, ARID1A and ARID1B, were identified in 8 of 71 tumors (11%) and were associated with early treatment failure and decreased survival. Using tumor-specific structural alterations, we developed an approach to identify rearranged DNA fragments in sera, providing personalized biomarkers for minimal residual disease detection and monitoring. These results highlight dysregulation of chromatin remodeling in pediatric tumorigenesis and provide new approaches for the management of neuroblastoma patients.

  Dataset EGAD00001000282

• RNA sequencing

  We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses.

  Dataset EGAD00001000285

• Molecular characterization of invasive lobular carcinoma

  Invasive lobular carcinoma (ILC) is the second most common histological subtype of breast cancer accounting for 10-15% of cases. ILC differs from invasive ductal carcinoma (IDC)with respect to epidemiology, histology, and clinical presentation. Moreover, ILC is lesssensitive to chemotherapy, more frequently bilateral, and more prone to form gastrointestinal, peritoneal, and ovarian metastases than IDCs. In contrast to IDC, the prognostic value ofhistological grade (HG) in ILC is controversial. One of the three major components of histological grading (tubule formation) is missing in ILC which hinders the process of gradingin this histological subtype and results in the classification of approximately two thirds of ILC as HG 2.Over the last decade, a number of gene expression signatures have shed light onto breast cancer classification, allowing breast cancer care to become more personalized. Withrespect to the management of estrogen receptor (ER)-positive breast cancer, several gene expression signatures provide prognostic and/or predictive information beyond what is possible with current classical clinico-pathological parameters alone. Nevertheless, most studies using gene expression signature have not considered different histologic subtypesseparately. Recently, a comprehensive research program has elucidated some of the biological underpinnings of invasive lobular carcinoma. Genetic material extracted from 200 ILC tumor samples were studied using gene expression profiling and identified ILCmolecular subtypes. These proliferation-driven gene signatures of ILC appear to have prognostic significance. In particular, the Genomic Grade (GG) gene signature improved upon HG in ILC and added prognostic value to classic clinico-pathologic factors. In addition this study demonstrated that most ILC are molecularly characterized as luminal-A (~75%)followed by luminal-B (~20%) and HER2-positve tumors (~5%). Moreover, we investigated the prognostic value of known gene signatures/ gene modules in the same cohort of ILC. As a second step within the scope of this project, we aim to investigate the interactionsbetween somatic ILC tumor mutations to observed transcriptome findings. To this end, we aim to perform somatic mutation analysis for the ILC tumors for which Affymetrix gene expression profiling is available. To this end, we will use a gene screen assay, which specifically interrogates the mutational status of a few hundreds of cancer genes. We believe that this pioneering effort will be fundamental for a tailored treatment of ILC withimprovement in patients' outcome.

  Dataset EGAD00001000288

• Breast Cancer FRT RNA seq

  We propose to definitively characterise the somatic genetics of ER+ve, HER2-ve breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses.

  Dataset EGAD00001000338

• Somatic mutations, clonal architecture and genomic evolution in multiple myeloma

  Multiple myeloma is an incurable plasma cell malignancy whose molecular pathogenesis is incompletely understood. We used whole exome sequencing, copy number profiling and cytogenetic to analyses 84 samples from 67 patients with myeloma. In addition to known myeloma genes, we identify new candidate genes, including truncations of SP140, ROBO1 and FAT3 and clustered missense mutations in EGR1. We find oncogenic mutations in cancer genes not previously implicated in myeloma, including SF3B1, PI3KCA and PTEN. We define diverse processes contributing to the mutational repertoire, including kataegis and somatic hypermutation. Most cases have at least one cluster of subclonal variants, including subclonal driver mutations, implying on-going tumor evolution. Serial samples revealed diverse patterns of clonal evolution, including linear evolution, differential clonal response and branching evolution. Our findings reveal the myeloma genome to be heterogeneous across patients and, within individual patients, to exhibit diversity in clonal admixture and dynamics in response to therapy.

  Dataset EGAD00001000339

• Genetics of Microcephalic Osteodysplatics Primordial Dwarfism

  This project aims to find causal variants in 50 patients diagnosed with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD), of presumed recessive inheritance performing whole exome sequencing to ~50x mean depth.This is a collaboration with Prof A. Jackson, MRC Human Genetics Unit, Edinburgh

  Dataset EGAD00001000342

• Congenital Heart Disease in UK Families

  This project aims to identify highly penetrant coding variants increasing the risk of Congenital Heart Disease (CHD) performing whole exome sequencing on DNA samples from 23 affected individuals, selected from 10 families with presumed Autosomal Recessive Inheritance. This is a collaboration with Prof. Eamonn Maher and Dr. Chirag Patel from the Department of Medical and Molecular Genetics, University of Birmingham plans to sequence 23 indexed Agilent whole exome pulldown libraries on 75Bp PE HiSeq (Illumina)

  Dataset EGAD00001000343