4052 results for "*geneti*"

in 23.36 milliseconds.

• Population histories of the Indigenous Adivasi and Sinhalese from Sri Lanka using whole genomes

  Sri Lanka has played a key role in the peopling of South Asia, with archaeological evidence for human presence on the island dating back to ⁓40,000 years ago. Present-day Indigenous peoples of the island, the Adivasi, are proposed to have descended from early inhabitants of the region, while urban populations like the Sinhalese, the major ethnic group on the island, migrated from India in historical times. Using whole genomes from 19 Adivasi individuals belonging to two clans and from 35 Sinhalese, we find that the Adivasi and Sinhalese share high genetic similarities with each other and with other Sri Lankan and Indian populations, especially those with greater genetic affinity to Ancestral South Indians (ASI). Admixture modeling of the Sri Lankan groups reveals that despite shared ancestral components, the Adivasi retain higher genetic contributions from ancient hunter-gatherers compared with the Sinhalese. Additionally, in contrast to the Sinhalese, the Adivasi have maintained low effective population size and undergone strong founder events, which is consistent with their hunter-gatherer lifestyle, historic relocations, and habitat fragmentation. While the two Adivasi clans are genetically more similar to each other than to any other populations, we observe differing demographic histories, with the Interior Adivasi experiencing a stronger bottleneck than the Coastal Adivasi since their split. This whole-genome-based study addresses gaps in our understanding of the demographic and migratory history of two key Sri Lankan groups and, consequently, of broader South Asia by illuminating complex population structure that has been shaped by both demographic and socio-cultural factors.

  Study EGAS50000001928

• Plasma CTCF ChIP-seq Reveals Cancer-Associated cfDNA Binding Profiles

  Cell-free DNA (cfDNA) in plasma predominantly exists as nucleoprotein complexes. Although circulating CTCF-bound cfDNA (cfCTCF-DNA) has previously been reported, the occupancy of individual CTCF binding sites in plasma has not been systematically characterised. This study describes the isolation of endogenous plasma cfCTCF-DNA by chromatin immunoprecipitation followed by next-generation sequencing (ChIP-seq) in samples obtained from cancer patients and healthy individuals. A two-step enrichment strategy was employed, combining physical removal of background cfDNA by immunoprecipitation with bioinformatic filtering to remove residual non-CTCF-derived sequences. Sequencing reads were aligned to the UCSC hg38 reference genome using BWA-MEM v0.7.17 and processed to generate CRAM files containing alignments restricted to the primary chromosomes (chr1–chr22, chrX, chrY and chrM). CTCF-associated cfDNA fragments were classified according to their similarity to a consensus CTCF binding motif, enabling discrimination between low-affinity and high-affinity CTCF binding sites. Comparative analyses identified quantitative and qualitative differences in plasma cfCTCF-DNA profiles between healthy individuals and patients with cancer. The deposited dataset comprises plasma cfCTCF-DNA ChIP-seq data from four clinical cohorts and includes both CTCF-enriched and total cfDNA samples where applicable. These data support the investigation of CTCF occupancy patterns as a novel class of liquid biopsy biomarkers for cancer detection and monitoring.

  Study EGAS50000001937

• Urine cfDNA workflow for epigenomic profiling.

  Urine cell-free DNA (cfDNA) holds great promise as a non-invasive biomarker for diagnosis, prognosis and treatment monitoring of diseases. However, its clinical utility is challenged by high nuclease activity and rapid degradation, necessitating an optimized urine cfDNA workflow. We evaluated a workflow for urine cfDNA methylation and fragmentation profiling, comparing PAXgene Urine Technology, with Streck Urine Preserve and unstabilized urine, using enzymatic methyl sequencing of cfDNA from healthy individuals, across multiple urine storage time points (immediate, 6 h, and 72 h). Urine stabilization significantly improved cfDNA yield and preserved cfDNA fragment sizes, while unstabilized samples exhibited marked degradation and reduced sequencing quality. Methylation analysis revealed high concordance between stabilized samples, with subtle divergence after 72 h. In contrast, unstabilized samples showed widespread methylation changes. Biological patterns were retained in stabilized urine cfDNA. Our study underscores the importance of well-designed (pre)analytical urine workflows to allow urine cfDNA (epi)genomic analyses.

  Study EGAS50000001535

• Circulating cell-free DNA methylation profiles as noninvasive multiple sclerosis biomarkers: A proof-of-concept study

  In chronic neurodegenerative diseases such as multiple sclerosis (MS), there is a critical unmet need for cost-effective non-invasive blood biomarkers to concurrently classify disease subtypes, monitor disability severity, and predict long-term progression. In this proof-of-concept study, we performed low-coverage whole-genome bisulfite sequencing (WGBS) on 75 plasma cell-free DNA (cfDNA) samples collected from a well-characterized real-world prospective clinic cohort with longitudinal disability outcome measurements. We assessed the clinical utility of cfDNA methylation profile for differentiating MS patients from non-MS controls, classifying MS subtypes, estimating disability severity, and predicting disease trajectories.

  Study EGAS50000001277

• INTEGRATIVE MOLECULAR ANALYSIS OF SKIN TUMORS FROM CYLD CUTANEOUS SYNDROME PATIENTS

  CYLD cutaneous syndrome (CCS) is a rare autosomal dominant disorder characterized by germline CYLD mutations and by multiple benign skin tumors dependent on NF-kB pathway. We assembled a large cohort of CCS rare skin tumors that was profiled with whole exome or genome sequencing, RNA sequencing and methylation arrays to better understand genetic mechanisms of CCS tumorogenesis.

  Dataset EGAD50000000362

• Multi-omic signatures in multiple myeloma

  Multiple myeloma (MM) is a genetically and clinically heterogeneous plasma-cell malignancy. Quadruplet therapy, combining anti-CD38 antibodies, immunomodulatory drugs, proteasome inhibitors, and dexamethasone, is now the standard induction treatment for newly diagnosed multiple myeloma (NDMM). To gain a comprehensive view of molecular changes in MM and their association with treatment response in this new standard care, we performed a multi-omic study of 423 NDMM from the MIDAS trial.

  Study EGAS50000001573

• Epigenetic and Transcriptomic profiling of hiPSC- and UCB-HSC derived CD4+CD8+ T progenitors

  Generation of T cell subsets from human induced pluripotent stem cells (hiPSCs) in defined in vitro systems could provide a valuable model to study the mechanisms of human T cell development in the thymus and serve as a scalable source for therapeutic cell products. We generated a unique DNA methylation (DNAmeth) and RNA-seq dataset of in vitro generated hiPSC-derived and umbilical cord blood (UCB-) derived T cell progenitor subsets from a feeder-free differentiaion system and integrated them with data from primary human thymocyte populations.

  Study EGAS50000001929

• Genotyping data from low-coverage whole genome sequencing (lc-WGS) for 90 Asian individuals

  A uniquely comprehensive genetic profile of 90 "healthy" Asian individuals who are representative of the diverse multi-ethnic population of Singapore, with 65 females and 25 males, aged 21 to 61 years, from the major ethnic groups (63 Chinese, 9 Malay, 18 Indian). This is a subset of the 92 participants described in PMID 41387625 (DOI: 10.1038/s43856-025-01298-4), who agreed to share their genetic data for future research beyond the original study. Replicates for one female (Coriell Cat# GM18592, RRID:CVCL_P195) and one male (Coriell Cat# GM18609, RRID:CVCL_P207) control cell line of type B-Lymphocyte, ethnicity Han Chinese from the NHGRI Sample Repository for Human Genetic Research were also included in each of the four flowcell lanes. This dataset consists of individual-level genetic data from low-coverage whole genome sequencing (lc-WGS, read length 2X150bp). Data from 4 commercially available genotyping arrays for the same samples is also available on EGA (EGAD00010002834).

  Dataset EGAD50000002806

• Genotyping data from four arrays for 90 Asian individuals (Illumina GDA, Illumina GSA, Illumina OncoArray, and ThermoFisher Axiom)

  A uniquely comprehensive genetic profile of 90 "healthy" Asian individuals who are representative of the diverse multi-ethnic population of Singapore, with 65 females and 25 males, aged 21 to 61 years, from the major ethnic groups (63 Chinese, 9 Malay, 18 Indian). This is a subset of the 92 participants described in PMID 41387625 (DOI: 10.1038/s43856-025-01298-4), who agreed to share their genetic data for future research beyond the original study. Replicates for one female (Coriell Cat# GM18592, RRID:CVCL_P195) and one male (Coriell Cat# GM18609, RRID:CVCL_P207) control cell line of type B-Lymphocyte, ethnicity Han Chinese from the NHGRI Sample Repository for Human Genetic Research were also included. This dataset consists of individual-level genetic data from 4 genotyping arrays -- the Illumina Infinium Global Diversity Array (GDA) v1.0, the Illumina Infinium Global Screening Array (GSA) v3.0, the Illumina Infinium OncoArray-500K v1.0, and a custom ThermoFisher Scientific's Applied Biosystems Axiom array. Data from low-coverage whole genome sequencing (lc-WGS read length 2X150bp) for the same samples is also available on EGA (EGAD50000002806).

  Dataset EGAD00010002834

• Large-scale single-cell phylogenetic mapping of clonal evolution in the human aging esophagus

  SMART-PTA single-cell whole-genome and full transcriptome sequencing form normal esophagus samples

  Dac EGAC50000000968