4210 results for "*geneti*"

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• Utility of whole exome sequencing for genomic newborn screening in India

  This study evaluates the use of genomic newborn screening to identify clinically relevant genetic variants in critically ill neonates. The project aims to investigate the potential of whole-exome sequencing (WES) for the early identification of rare genetic disorders. The study seeks to improve early diagnosis and support timely clinical management of neonates with suspected genetic conditions.

  Study EGAS50000002069

• Profibrotic priming of airway cell types in idiopathic pulmonary fibrosis and drug inhibition in single-cell resolution

  The cause and etiology of idiopathic pulmonary fibrosis, a severe chronic lung disorder with limited treatment options, is still poorly understood. Early genetic studies hinted that airway epithelial cells play an important role in the development of IPF while more recent single-cell RNA sequencing atlases from explant IPF lungs have focused on macrophages. In this study, we used air-liquid interface cultures of primary cells taken from the subsegmental bronchi of IPF patients, reflecting early-stage fibrosis, to interrogate the single-cell transcriptional landscape of the airway mucosa. We identified IPF-enriched cell-cell interaction pathways. Moreover, we also observed that IPF cell types shared “core” signatures, where epithelial cells had a pro-inflammatory signature while fibroblasts had an early activation signature. Harnessing the in vitro culture system, we also treated the cells with nintedanib, pirfenidone, and saracatinib, an Src kinase inhibitor that could inhibit IPF progression, to investigate their effects on the previously described IPF signatures. Unfortunately, only certain signatures were positively affected by the three drugs. This study provides more insight into the disease mechanisms of IPF and is a key resource for the IPF community to further investigate the effects of pharmacological inhibition.

  Study EGAS00001005794

• X chromosome dosage and the genetic impact across human tissues

  Study EGAS00001006996

• Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders

  This study aimed to comprehensively characterize the full spectrum of small genetic variation among 920 unrelated donors from this population based on whole-exome sequencing data to further develop CIRdb as the Canary Islanders-specific reference catalog of genetic variation.

  Study EGAS50000001726

• Screening for Prostate Cancer-Specific Differentially Methylated Regions Based on MeDIP-seq

  Methylated DNA Immunoprecipitation Sequencing (MeDIP-seq) on tissue samples from prostate cancer, benign prostatic hyperplasia (BPH), and bladder cancer.

  Study EGAS50000001894

• Low-input PCHi-C data in CD4+ T cells

  Low-input PCHi-C data in CD4+ T cells from Malysheva et al.

  Study EGAS50000001316

• Whole-genome variant calling of individuals from the study of allergic diseases in the Canary Islands

  Research study of genetic susceptibility and analyses of polygenic risk scores in allergic diseases. The historic influences in the Canary Islanders have resulted in an admixture of European, North Africans and Sub-saharan African genetic ancestries. Genetic risks linked to any of these ancestries could underlie disease peculiarities in the current inhabitants. To leverage genectic ancestry to identify and assess genetic risks in allergic diseases in the Canary Islands, we combine different genomic technologies in case-control studies and reference samples from the three parental populations to characterize and identify genetic risks factors and the intersection with ancestry.

  Study EGAS50000000299

• Huch Lab, Max Planck Institute of Molecular Cell Biology and Genetics

  Dac EGAC50000000112

• Genomic Data from Newborn Screening Samples

  This dataset comprises whole-exome sequencing (WES) data from critically ill neonates enrolled as part of a genomic newborn screening programme. Samples were analysed to identify genetic variants potentially associated with neonatal illness and underlying inherited disorders. WES was performed using lllumina Sequencing platform-NovaSeqX, and the resulting sequencing data are provided in FASTQ format.

  Dataset EGAD50000002971

• T-cell receptor repertoires against HLA class I-restricted minor histocompatibility antigens are highly diverse with a small subset of public clonotypes

  Allogeneic hematopoietic stem cell transplantation (alloHSCT) can be a curative treatment for hematological diseases. After HLA-matched alloHSCT, donor T cells may recognize minor histocompatibility antigens (MiHAs), which are polymorphic HLA-binding peptides on patient cells that are absent from donor cells due to genetic differences. Donor T cells can induce beneficial anti-tumor effects if MiHAs are targeted on malignant hematopoietic cells in the patient, while Graft-versus-Host Disease (GvHD) may develop if MiHAs are targeted on patients’ healthy non-hematopoietic tissues. We previously isolated T-cell clones from patients responding to donor lymphocyte infusions (DLIs) after HLA-matched alloHSCT, and identified HLA class I-restricted MiHAs. To investigate MiHA-specific T-cell responses in patients, we here sequenced the T-cell receptors (TCRs) of MiHA-specific T-cell clones and identified 394 distinct TCRs against 122 MiHAs. We used the collection of identified TCRs to measure frequencies of matched MiHA-specific TCRs in 39 patients responding to DLI with anti-tumor responses accompanied with no (n=9), limited (n=8) or severe (n=22) GvHD. The data showed higher MiHA-specific TCR frequencies in patients with severe GvHD, which were mainly driven by clonal expansion. Moreover, within the diverse MiHA-specific TCR repertoires in these patients, we identified 5 public TCRs against 4 MiHAs with identical CDR3 regions and several TCRs targeting MiHAs with similar, but not identical, CDR3 regions. We demonstrated that patients with severe GvHD have high MiHA-TCR frequencies mainly driven by clonal expansion, and that MiHA-specific TCR repertoires in patients responding to DLI after alloHSCT are highly diverse with a few public clonotypes.

  Study EGAS50000001959