Evidence map›Paper›PMID 36778464›Full record

ArticlemedRxiv : the preprint server for health sciences2023

A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.

Eleanor G Seaby, N Simon Thomas, David Hunt, Diana Baralle, Heidi L Rehm, Anne O'Donnell-Luria, Sarah Ennis

Open access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 2 countries.

Eleanor G SeabyHuman Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, SO16 6YD, UK.
N Simon ThomasWessex Regional Genomics Laboratory, Salisbury NHS Foundation Trust, Salisbury, SP2 8BJ, UK.
David HuntHuman Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, SO16 6YD, UK.
Diana BaralleHuman Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, SO16 6YD, UK.
Heidi L RehmProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Anne O'Donnell-LuriaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Sarah EnnisHuman Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, SO16 6YD, UK.
Broad Institute · USSouthampton General Hospital · GBSalisbury NHS Foundation Trust · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genome sequencing is now available as a clinical test on the National Health Service (NHS) through the Genome Medicine Service (GMS). The GMS have set out an analytical strategy that predominantly filters genome data on a pre-selected gene panel(s). Whilst this approach reduces the number of variants requiring assessment by reporting laboratories, pathogenic variants outside of the gene panel applied may be missed, and candidate variants in novel genes are largely ignored. This study sought to compare a research exome analysis to an independent clinical genome analysis performed through the NHS for the same group of patients. When analysing the exome data, we applied a panel agnostic approach filtering for variants with

Identifiers

PMID36778464
PMCPMC9915838
OpenAlexW4319033754

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.