Severe PID With Lymphoproliferation and Neutropenia

2018-02-14 18:30:15 | BioPortfolio

Published on BioPortfolio: 2018-02-14T18:30:15-0500

Clinical Trials [793 Associated Clinical Trials listed on BioPortfolio]

Enhancing Diagnosis in Chronic B-cell Lymphoproliferative Disorders Using Next-Generation Sequencing

To enhance the diagnosis of unclassifiable, non-CLL B-LPDs using next-generation sequencing technology.

Molecular Profiling to Improve Outcome of Patients in Cancer. A Pilot Study

Next Generation Sequencing in cancer: a feasibility study in France to assess sample circuit and to perform analyzes within a limited time.

Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Colorectal Cancer

The purpose of this study is to determine the proportion of patients diagnosed with Lynch syndrome in colorectal cancer patients with the loss of staining by immunohistochemistry (IHC) of ...

Phase II Umbrella Study Directed by Next Generation Sequencing

This phase II, umbrella trial study directed by next generation sequencing (NGS) works in Chinese patients with advanced stage NSCLC who never received any anti-tumor treatment. The purpos...

Delineation of Novel Monogenic Disorders in the United Arab Emirates Population

The study aims to identify novel monogenic phenotypes from specific pedigrees and discover the underlying causal genetic variant using genetic sequencing (Sanger and/or Next Generation Seq...

PubMed Articles [15882 Associated PubMed Articles listed on BioPortfolio]

VarAFT: a variant annotation and filtration system for human next generation sequencing data.

With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In

Detection of mixed-strain infections by FACS and ultra-low input genome sequencing.

The epidemiological tracking of a bacterial outbreak may be jeopardized by the presence of multiple pathogenic strains in one patient. Nevertheless, this fact is not considered in most of the epidemio...

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

According to the Catalogue of Transmission Genetics in Arabs, less than half of diseases reported in Lebanese patients are mapped. In the recent years, Next Generation Sequencing (NGS) techniques have...

Selective nanopore sequencing of human BRCA1 by Cas9-assisted targeting of chromosome segments (CATCH).

Next generation sequencing (NGS) is challenged by structural and copy number variations larger than the typical read length of several hundred bases. Third-generation sequencing platforms such as sing...

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...

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.

Techniques to determine the complete complement of sequences of all EXONS of an organism or individual.

Techniques to determine the entire sequence of the GENOME of an organism or individual.

A multistage process that includes DNA cloning, physical mapping, subcloning, sequencing, and information analysis.

A multistage process that includes RNA cloning, physical mapping, subcloning, sequencing, and information analysis.

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