Article

Children with Critical Illness Carry Risk Variants Despite Non-Diagnostic Whole Exome Sequencing

2022-05-02

Abstract excerpt

Rapid genetic sequencing is an established and important clinical tool for management of pediatric critical illness. The burden of risk variants in children with critical illness but a non-diagnostic exome has not been explored. This was a retrospective case-control analysis of research whole exome sequencing data that first underwent a diagnostic pipeline to assess the association of rare loss-of-function variant...

Topics

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

Identifiers and source

Literature Corpus work: d3d18352-25b0-5c44-af8e-e199c3ede29a
DOI: 10.1101/2022.05.01.22274445

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Children with Critical Illness Carry Risk Variants Despite Non-Diagnostic Whole Exome SequencingDOI 10.1101/2022.05.01.22274445Read

Risk Variants in the Exomes of Children With Critical IllnessSemantic proximity Read

Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluationSemantic proximity Read

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill childrenSemantic proximity Read

Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a reviewSemantic proximity Read

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill ChildrenSemantic proximity Read

Rapid Paediatric Sequencing (RaPS): Comprehensive real-life workflow for rapid diagnosis of critically ill childrenSemantic proximity Read

Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.Semantic proximity Read

Use of Exome Sequencing for Infants in Intensive Care UnitsSemantic proximity Read

Trio-Based Whole-Genome Sequencing for Critically Ill Pediatric Patients in KoreaSemantic proximity Read

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill childrenSemantic proximity Read

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseasesSemantic proximity Read

Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditionsSemantic proximity Read