Evidence map›Paper›PMID 38699371›Full record

ArticlemedRxiv : the preprint server for health sciences2024

VarPPUD: Variant post prioritization developed for undiagnosed genetic disorders.

Rui Yin, Alba Gutierrez, Undiagnosed Diseases Network, Shilpa Nadimpalli Kobren, Paul Avillach

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. 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.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Rui YinDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA 02115.ORCID 0000-0002-1403-0396
Alba GutierrezDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA 02115.ORCID 0000-0002-1245-198X
Undiagnosed Diseases Network
Shilpa Nadimpalli KobrenDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA 02115.ORCID 0000-0003-1264-6098
Paul AvillachDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA 02115.ORCID 0000-0002-0235-7543

Funding

Coordinating Center for the Undiagnosed Diseases NetworkU01HG007530 · NHGRI · HARVARD MEDICAL SCHOOL · PI KOHANE, ISAAC S. · 2014 to 2022
$30.2M
NHGRI NIH HHS U01 HG007530
6 · The paper itself

Abstract

Rare and ultra-rare genetic conditions are estimated to impact nearly 1 in 17 people worldwide, yet accurately pinpointing the diagnostic variants underlying each of these conditions remains a formidable challenge. Because comprehensive,

Indexed as

diagnostic variant predictionensemble predictorgenerative adversarial networkmodel interpretabilityUndiagnosed Diseases Networkvariants of uncertain significance

Identifiers

PMID38699371
PMCPMC11065012

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.