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Rapid Whole Genome Sequencing Study

2018-01-08 07:47:09 | BioPortfolio

Published on BioPortfolio: 2018-01-08T07:47:09-0500

Clinical Trials [2416 Associated Clinical Trials listed on BioPortfolio]

Perinatal Precision Medicine

This study will seek to determine if rapid genomic sequencing improves outcomes for acutely ill infants. The investigator will enroll up to 1,000 acutely ill infants in a prospective, rand...

Rady Children's Institute Genomic Biorepository

Rady Children's Institute for Genomic Medicine (RCI) will collect biological samples (such as blood), derived genomic sequences (from DNA and RNA), and clinical features in a Biorepository...

Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units

The purpose of study is to evaluate the benefits of using the Next Generation Sequencing Technology to diagnose birth defects and genetic diseases. The results from genomic sequencing can ...

Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units

The purpose of study is to evaluate the benefits of using the Next Generation Sequencing Technology to diagnose birth defects and genetic diseases. The results from genomic sequencing can ...

IMPLEMENTATION OF MOLECULAR DIAGNOSTIC PATHWAYS

Most neurological and neurodegenerative diseases have a multifactorial nature. For some of them it is documented a genetic component (sometimes described as Mendelian, other times as a mul...

PubMed Articles [36725 Associated PubMed Articles listed on BioPortfolio]

Next-generation sequencing as a second-tier diagnostic test for newborn screening.

Background Tandem mass spectrometry (MS/MS) has been used for newborn screening (NBS) of inherited metabolic diseases (IMDs) for decades. However, the traditional approach can yield false-positive or ...

Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.

Epstein-Barr virus (EBV) is associated with several life-threatening diseases, such as lymphoproliferative disease (LPD), particularly in immunocompromised hosts. Some categories of primary immunodefi...

Diagnostic Single Gene Analyses Beyond Sanger.

Molecular testing of congenital coagulation and platelet disorders offers confirmation of clinical diagnoses, supports genetic counselling, and enables predictive and prenatal diagnosis. In some cases...

Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India.

Genetic heterogeneity, high burden and the paucity of genetic testing for rare diseases challenge genomic healthcare for these disorders in India. Here we report our experience over the past decade, o...

Return of secondary findings in genomic sequencing: Military implications.

Genomic sequencing has become a widely used tool in clinical and research settings in both civilian and military healthcare systems.

Medical and Biotech [MESH] Definitions

Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.

A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.

Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.

Distinct units in some bacterial, bacteriophage or plasmid GENOMES that are types of MOBILE GENETIC ELEMENTS. Encoded in them are a variety of fitness conferring genes, such as VIRULENCE FACTORS (in "pathogenicity islands or islets"), ANTIBIOTIC RESISTANCE genes, or genes required for SYMBIOSIS (in "symbiosis islands or islets"). They range in size from 10 - 500 kilobases, and their GC CONTENT and CODON usage differ from the rest of the genome. They typically contain an INTEGRASE gene, although in some cases this gene has been deleted resulting in "anchored genomic islands".

Analysis of PEPTIDES that are generated from the digestion or fragmentation of a protein or mixture of PROTEINS, by ELECTROPHORESIS; CHROMATOGRAPHY; or MASS SPECTROMETRY. The resulting peptide fingerprints are analyzed for a variety of purposes including the identification of the proteins in a sample, GENETIC POLYMORPHISMS, patterns of gene expression, and patterns diagnostic for diseases.

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