455 results found in Targeted Sequencing

• Publications

  Next generation haplotyping to decipher nuclear genomic interspecific admixture in Citrus species: analysis of chromosome 2

  The most economically important Citrus species originated by natural interspecific hybridization between four ancestral taxa (Citrus reticulata, Citrus maxima, Citrus medica, and Citrus micrantha) and from limited subsequent interspecific recombination as a result of apomixis and vegetative propagation. …

• Publications

  Targeted PCR-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation (CDG)

  Congenital disorders of glycosylation (CDG) are a heterogeneous group of disorders caused by deficient glycosylation, primarily affecting the N-linked pathway. …

• Publications

  Species-specific control of external superoxide levels by the coral holobiont during a natural bleaching event

  The reactive oxygen species superoxide (O2·−) is both beneficial and detrimental to life. …

• Publications

  A Highly Sensitive and Quantitative Test Platform for Detection of NSCLC EGFR Mutations in Urine and Plasma

  In approximately 60% of patients with NSCLC who are receiving EGFR tyrosine kinase inhibitors, resistance develops through the acquisition of EGFR T790M mutation. …

• Publications

  Pyridine-type alkaloid composition affects bacterial community composition of floral nectar

  Pyridine-type alkaloids are most common in Nicotiana species. …

• Publications

  Up-Regulation of Periostin and Reactive Stroma is Associated with Primary Chemoresistance and Predicts Clinical Outcomes in Epithelial Ovarian Cancer

  Up to one third of ovarian cancer patients are intrinsically resistant to platinum-based treatment. …

• Publications

  Molecular profiling of chronic myelomonocytic leukemia reveals diverse mutations in >80% of patients with TET2 and EZH2 being of high prognostic relevance

  Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic malignancy characterized by myeloproliferative or myelodysplastic features. …

• Publications

  Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract

  Congenital anomalies of the kidney and urinary tract (CAKUT) account for 40–50 % of chronic kidney disease that manifests in the first two decades of life. …

• Publications

  Improved Efficiency and Reliability of NGS Amplicon Sequencing Data Analysis for Genetic Diagnostic Procedures Using AGSA Software

  Screening for BRCA mutations in women with familial risk of breast or ovarian cancer is an ideal situation for high-throughput sequencing, …

• Publications

  IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty

  Early or late pubertal onset affects up to 5% of adolescents and is associated with adverse health and psychosocial outcomes. …

• Publications

  Next-generation sequencing with a myeloid gene panel in core-binding factor AML showed KIT activation loop and TET2 mutations predictive of outcome

  Clinical outcome and mutations of 96 core-binding factor acute myeloid leukemia (AML) patients 18–60 years old were examined. …

• Publications

  Utilization of Super BAC Pools and Fluidigm Access Array Platform for High-Throughput BAC Clone Identification: Proof of Concept

  Bacterial artificial chromosome (BAC) libraries are critical for identifying full-length genomic sequences, correlating genetic and physical maps, and comparative genomics. …

• Publications

  Gauging NOTCH1 Activation in Cancer Using Immunohistochemistry

  Fixed, paraffin-embedded (FPE) tissues are a potentially rich resource for studying the role of NOTCH1 in cancer and other pathologies, but tests that reliably detect activated NOTCH1 (NICD1) in FPE samples have been lacking. …

• Publications

  Histologic, Molecular, and Clinical Evaluation of Explanted Breast Prostheses, Capsules, and Acellular Dermal Matrices for Bacteria

  Subclinical infections, manifest as biofilms, are considered an important cause of capsular contracture. …

• Publications

  Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 Confer Risk for Congenital Anomalies of the Kidney and Urinary Tract

  Congenital anomalies of the kidney and urinary tract (CAKUT) account for 40–50% of chronic kidney disease that manifests in the first two decades of life. …

• A novel hierarchical prognostic model of AML solely based on molecular mutations

  The karyotype is so far the most important prognostic parameter in acute myeloid leukemia (AML). …

• Publications

  Fine Mapping of the Barley Chromosome 6H Net Form Net Blotch Susceptibility Locus

  Net form net blotch, caused by the necrotrophic fungal pathogen Pyrenophora teres f. teres, is a destructive foliar disease of barley with the potential to cause significant yield loss in major production regions throughout the world. …

• Publications

  Clusters of Antibiotic Resistance Genes Enriched Together Stay Together in Swine Agriculture

  Antibiotic resistance is a worldwide health risk, but the influence of animal agriculture on the genetic context and enrichment of individual antibiotic resistance alleles remains unclear. …

• Publications

  Abnormalities in A-to-I RNA editing patterns in CNS injuries correlate with dynamic changes in cell type composition

  Adenosine to Inosine (A-to-I) RNA editing is a co- or post-transcriptional mechanism that modifies genomically encoded nucleotides at the RNA level. …

• Publications

  Genetic epidemiology of motor neuron disease-associated variants in the Scottish population

  Genetic understanding of motor neuron disease (MND) has evolved greatly in the past 10 years, including the recent identification of association between MND and variants in TBK1 and NEK1. …