3258 results for "*geneti*"

in 79.84 milliseconds.

• Molecular heterogeneity and commonalities in pancreatic cancer precursors with gastric and intestinal phenotype

  Due to the limited number of modifiable risk factors, secondary prevention strategies based on early diagnosis represent the preferred route to improve the prognosis of pancreatic ductal adenocarcinoma (PDAC). Here, we provide a comparative morphogenetic analysis of PDAC precursors aiming at dissecting the process of carcinogenesis and tackling the heterogeneity of preinvasive lesions.

  Study EGAS00001006793

• Exome sequencing of HCV+ lymphoma

  The present retrospective study aimed to explore the genetic landscape of a well-characterized series of 34 HCV-associated B-cell lymphomas from the observational multicentric ANRS HC-13 Lympho-C Study using tumor and matched germline whole exome sequencing (WES). It reported the first series of VHC-positive lymphoma patients analyzed by WES. Our results provide an overview of the genetic landscape associated to HCV-related B-cell lymphomas and highlight some novel putative candidate genes.

  Study EGAS00001006860

• Identifying rare genetic variants in 21 highly multiplex autism families

  Study EGAS00001006928

• CYP2C19 long-read sequencing

  Inter-individual differences in drug response based on genetic variations can lead to drug toxicity and treatment inefficacy. A large part of this variability is caused by genetic variants in pharmacogenes. Unfortunately, the Single Nucleotide Variant (SNV) panels currently used in clinical pharmacogenomic (PGx) testing are unable to detect all genetic variability in these genes. Long-read sequencing, on the other hand, has been shown to be able to resolve complex (pharmaco)genes. In this study we have assessed the added value of long-read sequencing for PGx focusing on the clinically important and highly polymorphic CYP2C19 gene. With a capture-based long-read sequencing panel we were able to characterize the entire region and assign variants to their allele of origin (phasing), resulting in the identification of 813 unique variants in 37 samples. To assess the clinical utility of this data we have compared the performance of three different *-allele tools (Aldy, PharmCat and PharmaKU) which are specifically designed to assign clinical haplotypes to pharmacogenes based on all input variants. We conclude that long-read sequencing can improve our ability to characterize the CYP2C19 locus, help to identify novel haplotypes and that *-allele tools are an useful asset in phenotype prediction. Ultimately, this approach could help to better predict an individual’s drug response and improve therapy outcomes.

  Study EGAS00001006929

• HLA-DR is absent in primitive macrophages through epigenetic silencing of master regulator CIITA

  The earliest macrophages are generated during embryonic development from erythro-myeloid progenitors (EMPs) via primitive haematopoiesis. This process is poorly understood in humans and in the mouse is thought to be spatially restricted to the yolk sac. Human fetal placental macrophages, Hofbauer cells (HBC), arise during the primitive haematopoietic wave at ~18 days post conception. Here we identify a population of placental erythro-myeloid progenitors (PEMPs) in the early human placenta that give rise to HBC. PEMP are fetal CD34+CD43+ progenitors found exclusively at early gestational timepoints. Transcriptomic analyses reveal that PEMP have conserved features of primitive yolk sac EMPs, including the lack of HLF expression. Using in vitro single-cell culture experiments we show that PEMP generate HBC-like cells that completely lack HLA-DR expression  and demonstrate that this is a conserved feature of all macrophages generated by primitive haematopoiesis in humans. Finally, we demonstrate that the class II transactivator, CTIIA, the master regulator HLA-DR expression, is epigenetically silenced during primitive haematopoiesis, leading to HLA-DRneg macrophages. These findings demonstrate that HBC are derived locally from PEMP and establish the human placenta as an additional site of primitive haematopoiesis.

  Study EGAS00001006981

• Quantitative analysis of a novel DNA hypermethylation panel for lung cancer diagnosis

  Study EGAS00001007008

• Genetic heritage of the Baphuthi highlights an over-ethnicised notion of 'Bushman' in the Maloti-Drakensberg, southern Africa

  Using contemporary people as proxies for ancient communities is a contentious but necessary practice in anthropology. In southern Africa, the distinction between the Cape KhoeSan and eastern KhoeSan remains unclear as ethnicity labels have been changed through time and most communities were decimated if not extirpated. The eastern KhoeSan may have had genetic distinctions from neighbouring communities who speak Bantu languages and KhoeSan further away, alternatively the identity may not have been tied to any notion of biology, instead denoting communities with a nomadic 'lifeway' distinct from African agro-pastoralism. The Baphuthi of the 1800s in the Maloti-Drakensberg, southern Africa had a substantial KhoeSan constituency and a lifeway of nomadism, cattle raiding, and horticulture. Baphuthi heritage could provide insights into the history of the eastern KhoeSan. We examine genetic affinities of 23 Baphuthi to discern whether the narrative of KhoeSan descent reflects distinct genetic ancestry. Genome-wide SNP data (Illumina GSA) were merged with 52 global populations, for 160K SNPs. Genetic analyses show no support for a unique eastern KhoeSan ancestry distinct from other KhoeSan or southern Bantu-speakers. The Baphuthi have strong affinities with early-arriving southern Bantu-speaking (Nguni) communities, as the later-arriving non-Nguni show strong evidence of recent African admixture possibly related to Late-Iron Age migrations. The references to communities as 'San',and 'Bushman' in historic literature has often been misconstrued as notions of ethnic/biological distinctions. The terms may have reflected ambiguous references to non-sedentary polities instead, as seems to be the case for the eastern ‘Bushman’ heritage of the Baphuthi.

  Study EGAS00001007080

• Long-term organoid culture of a small intestinal neuroendocrine tumor rna-seq

  Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) are rare and highly heterogeneous neoplasms whose incidence has markedly increased over the last decades. A grading system based on the tumor cells' proliferation index predicts high-risk for G3 NETs. However, low-to-intermediate grade (G1/G2) NETs have an unpredictable clinical course that varies from indolent to highly malignant. Cultures of human cancer cells enable to perform functional perturbation analyses that are instrumental to enhance our understanding of cancer biology. To date, no tractable and reliable long-term culture of G1/G2 NET has been reported to permit disease modeling and pharmacological screens. Here, we report of the first long-term culture of a G2 metastatic small intestinal NET that preserves the main genetic drivers of the tumor and retains expression patterns of the endocrine cell lineage. Replicating the tissue, this long-term culture showed a low proliferation index, and yet it could be propagated continuously without dramatic changes in the karyotype. The model was readily available for pharmacological screens using targeted agents and as expected, showed low tumorigenic capacity in vivo. Overall, this is the first long-term culture of NETs to faithfully recapitulate many aspects of the original neuroendocrine tumor.

  Study EGAS00001007108

• 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

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

  Dac EGAC00001000076

• Aboriginal Genetics and Health Studies based at the Telethon Kids Institute, Perth, Western Australia

  Dac EGAC00001000261

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

  Dac EGAC00001000303

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

  Dac EGAC00001000304

• VIB Department of Molecular Genetics DAC AMG and NG

  Dac EGAC00001000395

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

  Dac EGAC00001000426

• Division of Biomedical Genetics UMC Utrecht

  Dac EGAC00001000432

• 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

• 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

• Human Genetics Wuerzburg

  Dac EGAC00001000654

• 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

• 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