14662 results for "PLOS+ONE+Pennsylvania+German+ACS+language+code+pdc+open+access+study"

in 13.32 milliseconds.

• APL nanopore sequencing

  Nanopore sequencing for an APL patient

  Study EGAS00001005618

• Characterization of a novel MEF2D-BCL9 fusion positive acute lymphoblastic leukemia cell line WXS

  Study EGAS00001006800

• Characterization of a novel MEF2D-BCL9 fusion positive acute lymphoblastic leukemia cell line RNA-Seq

  Study EGAS00001006802

• Real_time_ssRNAseq_flow_pilot

  Real time ssRNAseq flow pilot

  Study EGAS00001006304

• Epigenomic profile of diverse cancer

  Epigenomic profile of diverse cancer.

  Study EGAS00001004352

• Paediatric Tumour Profiling

  Paediatric Tumour Profiling

  Study EGAS00001003437

• HCA_Heart_Adult_Wellcome_DNA

  Human Cell Atlas - WGS Adult Heart

  Study EGAS00001006359

• Genome sequencing in monozygotic twins discordant for Mayer-Rokitansky-Küster-Hauser syndrome

  Study EGAS00001006371

• Single Cell Genome Variation Induced by Mutational Processes in Cancer - HGSOC Trios Study

  Mutational signatures derived from whole genome sequencing have potential prognostic significance. Identification of high grade serous ovarian cancer patients with deficiency in homologous recombination repair pathways could identify a subset of patients that would benefit from homologous recombination deficiency-specific treatments independent of identification of a pathological BRCA1/2 gene mutation. Clinical protocols rely on a pathologist's assessment of formalin-fixed paraffin-embedded (FFPE) tissues, and thus FFPE tissue samples are readily available. However, the bulk of mutational signature analyses have been performed on fresh frozen tissues. In this study, we aimed to assess the reliability of whole genome sequencing, variant calling, and mutational signature analysis from FFPE tissue samples.

  Study phs003036

• Genome Wide Association Study of Serum Creatinine during Vancomycin Therapy and Vancomycin Pharmacokinetics

  The goal of this study was to identify genetic variants associated with risk for acute kidney injury (AKI) in patients being treated with vancomycin and genetic variants associated with variability in vancomycin pharmacokinetics. AKI is a common adverse drug event and known complication of vancomycin therapy. Known risk factors fail to accurately predict renal toxicity. Our hypothesis, that genetic variants modify the risk of AKI, was tested by performing genome-wide association and linear regression in 429 patients of European descent using the outcome of peak serum creatinine while on vancomycin. We also tested the hypothesis that genetic variants associate with vancomycin pharmacokinetics, using vancomycin trough levels and calculated renal elimination rate constant as outcomes.

  Study phs000894