14423 results for ""Pennsylvania+German"+ACS+study+'Socius'+open+access"

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• Identification of the cause of juvenile parkinsonism in a case_SYNJ1

  This study aimed to elucidate the genetic causes underlying the Juvenile Parkinsonism diagnosed in a girl using whole-exome sequencing, analysis of CAG repeats, RNA sequencing analysis on fibroblasts, and metabolite identification. As a result, a homozygous missense mutation SNP T/C (rs2254562) in SYNJ1 and alteration in metabolism were identified.

  Study EGAS00001007686

• Single individual whole genome sequencing of Jakun, Indigenous Peoples of the Peninsular Malaysia

  This study disected the genetic structure of a Jakun individual, a sub-tribe of Indigenous Proto-Malay from Peninsular Malaysia. They are postulated to have settled in Peninsular Malaysia approximately 4-6 KYA, during the last agricultural expansion. However, their genetic structure is still not well understood.

  Study EGAS50000000740

• Screening for tryptophan conversion in human stool samples

  The goal of this study was to compare the tryptophan metabolism of different human fecal microbiota. To this end we enriched human stool samples in culture medium and measured growth and metabolite concentrations after 48h of culture. We quantified the consumption of tryptophan and the production of typical tryptophan derivaties.

  Study EGAS50000000548

• Dietary convergence induces individual responses in faecal microbiome composition

  This dietary intervention employed an ABA design where participants maintained their habitual diet during baseline and washout periods, while restricting intake to only oats, whole milk, and water during the intervention phase. The study deliberately imposed this severe dietary shift to maximize observable effects on gut microbiome composition and function.

  Study EGAS50000000948

• Admixture histories of São Tomé e Príncipe.

  In this study, we aim to reconstruct the complex genetic admixture histories of the population of São Tomé e Príncipe, an archipelago in the Gulf of Guinea that experienced successive waves of forced and deliberate migration from Africa since the 15th century, during and after the Trans-Atlantic Slave Trade.

  Study EGAS50000000920

• Dataset of DNA methylation profiles of 189 pediatric central nervous system, soft tissue, and bone tumors

  The research of CNS tumors brought knowledge about the role of epigenetics in these tumors. Certain subgroups of tumors are defined solely by their epigenetic profiles. In this study we carried on epigenetic profiling using targeted methylation sequencing of aproximately 180 pediatric CNS and Sarcoma tumor samples.

  Study EGAS50000000051

• Development of actionable molecular targets and/or biomarkers for prognostication and patient stratification in gynecological cancer based on whole-exome sequencing and epigenomic analysis

  We collected 92 endometrial hyperplasia lesions (48 non-atypical from 30 cases and 44 atypical from 24 cases) and matched normal tissues/whole blood. The purpose of this study is to develop actionable molecular targets and/or biomarkers for prognostication and patient stratification.

  Study JGAS000642

• LongVar low-coverage data

  This dataset includes sequencing data from participants of the LongVar study. Specifically, it comprises low-coverage whole genome sequencing (WGS) data which was derived from cell-free DNA from blood samples. These data were generated to compare imputation accuracy. 133 individuals agreed to share their data, and are healthy volunteers.

  Study EGAS50000001114

• Whole genome sequence: cardiomyopathy, 1 HCM patient

  In this study, we analyzed the genomic information by whole genome sequencing using peripheral blood samples from patients with various cardiovascular diseases including severe heart failure to identify genetic variants related to the pathology of cardiovascular diseases. The purpose is to elucidate the underlying mechanism and develop new therapeutic interventions for cardiovascular disease.

  Study JGAS000704

• Whole genome sequence: cardiomyopathy, 1 ARVC patient

  In this study, we analyzed the genomic information by whole genome sequencing using peripheral blood samples from patients with various cardiovascular diseases including severe heart failure to identify genetic variants related to the pathology of cardiovascular diseases. The purpose is to elucidate the underlying mechanism and develop new therapeutic interventions for cardiovascular disease.

  Study JGAS000705

• Germline WES-data of pediatric cancer patients with variants in HBOC-related genes

  This study focused on the identification of (likely) pathogenic germline variants (LP/PV) in 25 adult-onset HBOC-related genes in a cohort of 372 pediatric cancer patients. The cohort was sequenced on Illumina platforms. The files uploaded here belong to the 27 individuals with such a LP/PV.

  Study EGAS50000001073

• T-cell receptor repertoire profiling (PBMC)

  This study assessed the TCR repertoire in peripheral blood from patients before, during and after neoadjuvant chemoimmunotherapy. TCR beta chain sequences in RNA from peripheral blood were amplified with the OncomineTM long read assay, templated and sequenced. TCR metrics such as clonality, evenness and diversity were assessed in relation with response metrics.

  Study EGAS50000001137

• T-cell receptor repertoire profiling (FFPE tissue)

  This study assessed the TCR repertoire in tumor tissue from NSCLC patients before, during and after neoadjuvant chemoimmunotherapy. TCR beta chain sequences in RNA from FFPE tissue were amplified with the OncomineTM short read assay, templated and sequenced. TCR metrics such as clonality, evenness and diversity were assessed in relation with response metrics.

  Study EGAS50000001138

• GTestimate: Improving relative gene expression estimation in scRNA-seq using the Good-Turing estimator

  This study introduces a novel scRNA-seq normalization method, which takes unobserved genes into account. To validate GTestimate we designed a cell targeted amplification strategy, enabling us to sequence a small set of cells twice, once at a "typical" sequencing depth and once at a "ultra-deep" sequencing depth.

  Study EGAS50000000915

• Molecular classification of small intestinal adenocarcinomas

  In this study we analyzed genomic and transcriptomic data from 135 small intestinal adenocarcinoma (SIA) patients. Through this analysis, we identified three distinct subtypes based on gene expression patterns, revealing the diverse molecular characteristics among SIA patients. Our findings provide comprehensive insights into the unique features of each subtype.

  Study EGAS50000001238

• Identification of genetic mutations characteristic for recurrence and metastasis of lymphoma.

  We collected the cancerous tissues of the primary and recurrence tumors from the same patient with recurrent B cell lymphoma, and the purpose of this study is to find the characteristics of recurrent B cell lymphoma by carrying out a "molecular profiling", mainly the exome sequence analysis of these tissues.

  Study JGAS000087

• Intractable Cancer Therapy Development through a New Target Identification by Molecular Profiling

  We collected the cancerous tissues of the primary and recurrence tumors from the same patient with recurrent / metastatic breast cancer, and the purpose of this study is to find the characteristics of recurrent / metastatic breast cancers by carrying out a "molecular profiling", mainly the exome sequence analysis of these tissues.

  Study JGAS000075

• RNA-sequence analysis in patients with inclusion body myositis

  This study aimed to elucidate the molecular features of inclusion body myositis (IBM). We performed RNA sequencing analysis of muscle biopsy samples from myositis patients with the pathological finding of CD8-positive T cells invading non-necrotic muscle fibers expressing major histocompatibility complex class I (IBM, polymyositis, and unclassifiable myositis), and controls.

  Study JGAS000068

• Identification of genetic mutations characteristic for recurrence and metastasis of gastric cancer.

  We collected the cancerous tissues of the primary and recurrence tumors from the same patient with recurrent / metastatic gastric cancer, and the purpose of this study is to find the characteristics of recurrent / metastatic gastric cancers by carrying out a "molecular profiling", mainly the exome sequence analysis of these tissues.

  Study JGAS000086

• SF3B1 splicing signature

  We describe individuals with de novo pathogenic variants in SF3B1. SF3B1 is a core component of the U2 snRNP complex that ensures accurate branchpoint and 3′ splice-site recognition, and its mutations induce aberrant splicing that contributes to tumorigenesis, notably in myelodysplastic syndromes. We aim to study splicing defects associated with constitutional pathogenic variants.

  Study EGAS50000001473

• snRNA-seq schizophrenia control Prefrontal cortex

  In this study, we performed RNA sequencing of single nuclei from the prefrontal cortex of donors with and without schizophrenia using the 10x Genomics Chromium Single Cell protocol. The project rationale is to determine cell type specific transcriptomic changes between the two groups and linking them to the risk for schizophrenia.

  Study EGAS50000001703

• Understanding_population_genetics_and_patterns_of_genome_wide_heterozygosity_in_a_sample_of_the_Croatian_isolated_populations__ESGIDalmatians_

  Using high-throughput sequencing technologies and analytical tools, we conduct an exome sequencing study that will help understand the populationgenetics of a Croatian island isolate, in a sample of 200 subjects from the Adriatic island of Vis who wereselected to reflect islanders with at least four known ancestors in grandparental line who are original islanders.

  Study EGAS00001000336

• Indonesian methylation data

  DNA methylation data were collected to study patterns of functional variation across the broad geography of Indonesia. The region has extremely diverse populations, with very different demographic histories and multiple genetic ancestries. This dataset reports Illumina Epic methylation chip data for individuals from three islands spanning this geographical region: Mentawai, Sumba and West Papua.

  Study EGAS00001003653

• Whole exome sequencing in familial Multiple Sclerosis

  The purpose of the study is to determine whether variants of genes are associated with greater risk of Multiple Sclerosis (MS). We used whole-exome sequencing in 138 individuals from 23 families including at least 2 members with MS. We compare patients with MS, patients with other autoimmune diseases (AID), and unaffected individuals.

  Study EGAS00001004204

• Oncogenic gene fusions in primary colon cancers

  This study represents RNA-sequencing data from 278 primary colon cancers obtained from fresh-frozen tumor sections. The project goal was to identify novel oncogenic gene fusions in these data. In addition, we studied the detected gene fusions at the molecular level and defined their effects on downstream pathways.

  Study EGAS00001002197