Evidence map›Paper›PMID 37034701›Full record

ArticlemedRxiv : the preprint server for health sciences2023

A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project.

Eleanor G Seaby, Gary Leggatt, Guo Cheng, N Simon Thomas, James J Ashton, Imogen Stafford, Genomics England Consortium, Diana Baralle, Heidi L Rehm, Anne O'Donnell-Luria and 1 more

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, 2 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors at 3 institutions in 2 countries.

Eleanor G SeabyHuman Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, SO16 6YD, UK.
Gary LeggattHuman Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, SO16 6YD, UK.
Guo ChengHuman Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, SO16 6YD, UK.
N Simon ThomasHuman Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, SO16 6YD, UK.
James J AshtonHuman Development and Health, Faculty of Medicine, University Hospital Southampton, Southampton, Hampshire, SO16 6YD, UK.
Imogen StaffordUniversity of Sussex, Brighton BN1 9RH, UK.
Genomics England Consortium
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.
Southampton General Hospital · GBBroad Institute · USUniversity of Sussex · GB

Funding

Broad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6M
A powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9M
NHGRI NIH HHS R01 HG009141NHGRI NIH HHS U01 HG011755Wellcome Trust
6 · The paper itself

Abstract

The 100,000 Genomes Project (100KGP) diagnosed a quarter of recruited affected participants, but 26% of diagnoses were in genes not on the chosen gene panel(s); with many being

Identifiers

PMID37034701
PMCPMC10081430
OpenAlexW4360991420

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.