14512 results for "PLOS+ONE+Pennsylvania+German+ACS+language+code+pdc+open+access+study"

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• WES data for Family 2 from optic atrophy study

  The dataset includes the BAM files from WES experiments performed on a proband presenting with syndromic optic atrophy and his healthy parents - Family 2 in our study

  Dataset EGAD00001005344

• RNA sequencing study for 8 pairs of primary NSCLCs and distant metastases

  RNA sequencing study for 8 pairs of primary NSCLCs and distant metastases. This dataset includes a total of 29 samples.

  Dataset EGAD00001005765

• Whole genome data for study EGAS00001000824 (Diverse modes of genomic alterations in hepatocellular carcinoma)

  Whole genome data (Complete genomics platform) for the study EGAS00001000824

  Dataset EGAD00001001034

• Analysis .bam files from HiSeq sequencing of Australian ICGC PDAC study samples, submitted 20130826

  Analysis .bam files from HiSeq sequencing of Australian ICGC PDAC study samples, submitted 20130826

  Dataset EGAD00001000660

• 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

• Andersen-Tawil Syndrome: Genotype-phenotype correlation and longitudinal study

  Andersen-Tawil Syndrome (ATS) is a rare, genetic disorder that causes episodes of muscle weakness, potentially life-threatening changes in heart rhythm, and developmental abnormalities. Disease symptoms can vary, the cause of some ATS cases remains unknown, and no specific treatment has been identified. The purpose of this multi-site study is to better characterize ATS, establish whether symptoms change over time, and determine if symptoms are related to a mutation in the KCNJ2 gene.

  Study phs001289

• Circulating cell-free and extracellular vesicles-derived microRNA as prognostic biomarkers in patients with early-stage NSCLC: results from RESTING study

  Lung cancer, especially non-small cell lung cancer (NSCLC), has high mortality rates. Early-stage NSCLC shows a 50% relapse rate post-surgery, with most recurrences occurring within two years and a 5-year survival of only 30%. This study focuses on the prognostic value of circulating miRNAs in surgically treated ES-NSCLC patients, aiming to assess their predictive accuracy and compare them to standard prognostic factors.

  Study EGAS50000001032

• Cannabis impacts female fertility as evidenced by an in vitro investigation and a case-control study

  Single immature human oocytes were cultured in vitro (24h) either under control, THC1 () or THC2 (100 ng/mL Δ9-THC, 50 ng/mL 11-OH-THC, 200 ng/mL 11-COOH-THC) conditions. Oocytes were collected and subjected to SmartSeq v4 cDNA conversion, library prep (Nextera XT)), and sequencing (NovaSeq S4). The goal of this study was to determine the impact of THC on the human oocyte transcriptome.

  Study EGAS50000001052

• Idiopathic Scoliosis (SNP-array & WES study)

  This study aimed to investigate the genetic basis of severe idiopathic scoliosis (IS) using whole exome sequencing (WES) and SNP array methods. We intended to identify structural and point genetic variations contributing to the development of IS. By analyzing intraoperatively collected articular processes (AP) and blood (BL) samples from 70 unrelated individuals with IS, we sought to uncover pathogenic copy number variants (CNVs), regions of homozygosity (ROH), and single-nucleotide variants (SNVs) linked to the condition. EGAD00001015758

  Study EGAS00001008152

• Susceptibility loci for tanning ability in Japanese population identified by genome-wide association study

  We performed genome-wide association studies of Japanese Skin Type for Japanese individuals from a cohort study by the Tohoku Medical Megabank Project in order to identify variants related to tanning ability and skin pigmentation. We used imputed genotype data of 9,187 Japanese individuals, of which 4,475 individuals are from Miyagi prefecture and 4,712 individuals are from Iwate prefecture. Skin Type information was obtained from the questionnaire for cohort participants.

  Study JGAS000160