Article

Whole genome sequencing of a sporadic primary immunodeficiency cohort

2018-12-21

Abstract excerpt

Primary immunodeficiency (PID) is characterised by recurrent and often life-threatening infections, autoimmunity and cancer, and it presents major diagnostic and therapeutic challenges. Although the most severe forms present in early childhood, the majority of patients present in adulthood, typically with no apparent family history and a variable clinical phenotype of widespread immune dysregulation: about 25% of...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 07215bf1-c8f3-5cf3-8bc3-986cf0b1d20c
DOI: 10.1101/499988

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Whole genome sequencing of a sporadic primary immunodeficiency cohortDOI 10.1101/499988Read

Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary ImmunodeficienciesSemantic proximity Read

Utility of next generation sequencing in clinical primary immunodeficiencies.Semantic proximity Read

Contribution of high‐throughput DNA sequencing to the study of primary immunodeficienciesSemantic proximity Read

Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future PerspectivesSemantic proximity Read

Diagnostics of Primary Immunodeficiencies through Next-Generation SequencingSemantic proximity Read

An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD® and dbSNP databases.Semantic proximity Read

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable ImmunodeficiencySemantic proximity Read

Targeted next-generation sequencing for genetic diagnosis of 160 patients with primary immunodeficiency in south China.Semantic proximity Read

Identification and Functional Validation of Novel Pathogenic Variants in Primary Immunodeficiencies.Semantic proximity Read

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.Semantic proximity Read

Genetic Screening of the Patients with Primary Immunodeficiency by Whole-Exome Sequencing.Semantic proximity Read

Review: Diagnosing Common Variable Immunodeficiency Disorder in the Era of Genome Sequencing.Semantic proximity Read