P333: Rapid exome/genome sequencing in acute pediatric settings influences acute and long-term management of patients and their families

Rapid Exome/Genome Sequencing Service was launched by National Health Service England on 1st October 2019 for acutely unwell babies and children with a likely monogenic disorder. The service was provided by the Exeter Genomic laboratory under R14 category as per the National Genomic Test Directory. We present a clinical audit data of five years of the service from one regional clinical genetics center (West Midlands Clinical Genetics Centre) In England.

Authors

Institutions

Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.102298
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

P333: Rapid exome/genome sequencing in acute pediatric settings influences acute and long-term management of patients and their families

Karen Stals, Lorraine Hartles-Spencer, Swati Naik, Andrew Parrish et al.
1 links
Genetics in Medicine Open
Genomics and Rare Diseases
article

P333: Rapid exome/genome sequencing in acute pediatric settings influences acute and long-term management of patients and their families

Karen Stals, Lorraine Hartles-Spencer, Swati Naik, Andrew Parrish, Ramanand Jeeneea, Madhura Chandrashekara
article en

Abstract

Rapid Exome/Genome Sequencing Service was launched by National Health Service England on 1st October 2019 for acutely unwell babies and children with a likely monogenic disorder. The service was provided by the Exeter Genomic laboratory under R14 category as per the National Genomic Test Directory. We present a clinical audit data of five years of the service from one regional clinical genetics center (West Midlands Clinical Genetics Centre) In England.

Genetics in Medicine OpenVol. 3
University of Exeter (GB), Royal Devon & Exeter NHS Foundation Trust (GB), Wessex Regional Genetics Laboratory (GB), Birmingham Women’s and Children’s NHS Foundation Trust (GB)
Openalex Percentile: Top 94%
Genomics and Rare Diseases
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.