3413 results for "*geneti*"

in 58.82 milliseconds.

• Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP

  We conducted GWAS of sporadic CJD, variant CJD, iatrogenic CJD, inherited prion disease, kuru and resistance to kuru despite attendance at mortuary feasts. After quality control we analysed 2000 samples and 6015 control individuals (provided by the Wellcome Trust Case Control Consortium and KORA-gen), for 491032-511862 SNPs in the European study. Association studies were done in each geographical and aetiological group followed by several combined analyses.

  Study EGAS00000000097

• Identification of genetic etiology of CAMRQ2

  We aimed to identify genetic etiology of cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ). Targeted sequencing of the entire CAMRQ2 locus, 7.1 Mb interval on chromosome 17p13, in three affected individuals and two obligate carriers uncovered the mutation associated with CAMRQ2.

  Study EGAS00000000099

• Genome-wide DNA methylation sequencing identifies epigenetic perturbations in the upper airways under long-term exposure to moderate levels of ambient air pollution

  While the link between exposure to high levels of ambient particulate matter (PM) and increased incidences of respiratory and cardiovascular diseases is widely recognized, recent epidemiological studies have shown that low PM concentrations are equally associated with adverse health effects. As DNA methylation is one of the main mechanisms by which cells regulate and stabilize gene expression, changes in the methylome could constitute early indicators of dysregulated signaling pathways. So far, little is known about PM-associated DNA methylation changes in the upper airways, the first point of contact between airborne pollutants and the human body. Here, we focused on cells of the upper respiratory tract and assessed their genome-wide DNA methylation pattern to explore exposure-associated early regulatory changes. Using a mobile epidemiological laboratory, nasal lavage samples were collected from a cohort of 60 adults that lived in districts with records of low (Simmerath) or moderate (Stuttgart) PM10 levels in Germany. PM10 concentrations were verified by particle measurements on the days of the sample collection and genome-wide DNA methylation was determined by enzymatic methyl sequencing at single-base resolution. We identified 231 differentially methylated regions (DMRs) between moderately and lowly PM10 exposed individuals. A high proportion of DMRs overlapped with regulatory elements, and DMR target genes were involved in pathways regulating cellular redox homeostasis and immune response. In addition, we found distinct changes in DNA methylation of the HOXA gene cluster whose methylation levels have previously been linked to air pollution exposure but also to carcinogenesis in several instances. The findings of this study suggest that regulatory changes in upper airway cells occur at PM10 levels below current European thresholds, some of which may be involved in the development of air pollution-related diseases.

  Study EGAS00001007374

• Genetics of gene expression in primary human immune cells Data Access Committee

  Dac EGAC01000000009

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

  Neonates primarily rely on innate immunity, yet their inflammatory responses to microbes, particularly those of monocytes, are usually restricted compared to adults. This is controversially interpreted as immaturity increasing the risk of sepsis or essential programming allowing immune adaptation after birth. Which changes the cellular immunometabolism undergoes after birth and its role in these concepts are poorly defined. Here, we applied transcriptomic, metabolic, and immunological approaches and found that monocytes exhibit an inverse ontogenetic balance of immunometabolism. Our data show that glycolysis in monocytes increases within the first year of life and fuels their inflammatory responsiveness. In contrast, oxidative phosphorylation (OXPHOS) is high in neonatal monocytes supporting myeloid differentiation but declines only gradually during the first five years of life. Treatment of neonatal monocytes with lipopolysaccharide induces an adult-like immunometabolic phenotype. Ketogenic diet restricts glycolysis in adult monocytes, but cannot reactivate OXPHOS and revive a neonatal-like immunometabolic phenotype, suggesting that neonatal metabolism is hardwired and cannot be restored by simple dietary changes. Transcriptional network and population-wide human variation analyses identified E2F1, MYB, STAT1 and FLI1 as important regulators of age-dependent cell functions and related energy demands in human monocytes. Collectively, our findings show that restricted glycolysis and increased OXPHOS are a physiological programming in neonatal monocytes. Premature switching to an adult-like metabolism could untimely enhance inflammatory responses and disrupt important myeloid differentiation, whereas microbial challenges accumulating during childhood seem to induce an essential gradual metabolic switch.

  Study EGAS00001007555

• Cancer Genetics Data Access Commitee

  Dac EGAC00001001742

• European Network of Genomic and Genetic Epidemiology Data Access Committee

  Dac EGAC00000000008

• DAC_for_study___SEQCAP_Unraveling_the_genetic_basis_of_a_collagen_migration_defect_in_patients

  Dac EGAC00001000020

• DAC_for_study___Screening_for_human_epigenetic_variation_at_CpG_islands

  Dac EGAC00001000043

• 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