Evidence map›Paper›PMID 40297433›Full record

ArticlemedRxiv : the preprint server for health sciences2025

A Pilot Meta-research on Evolving Evidence Behind Genetic Variant (Re)Classification.

Haotian Ma, Zihan Xu, Wendy Chung, Chunhua Weng, Yifan Peng

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. 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

5 · Who and what money

Authors and funding

5 authors.

Haotian MaWeill Cornell Medicine, New York, NY, US.
Zihan XuWeill Cornell Medicine, New York, NY, US.
Wendy ChungBoston Children's Hospital and Harvard Medical School, Boston, MA, US.
Chunhua WengColumbia University, New York, NY, US.
Yifan PengWeill Cornell Medicine, New York, NY, US.ORCID 0000-0001-9309-8331

Funding

Clinical and Translational Science AwardUL1TR001873 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI REILLY, MUREDACH P · 2016 to 2025
$99.0M
Disparities in COVID Disease Severity and Outcomes in New York CityUL1TR002384 · NCATS · WEILL MEDICAL COLL OF CORNELL UNIV · PI JULIANNE L IMPERATO-MCGINLEY · 2017 to 2026
$86.2M
RESCUE: Rare Disease Detection and Escalation Support via a Learning Health SystemR01HG012655 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Cong Liu · 2022 to 2026
$4.1M
ClinEX - Clinical Evidence Extraction, Representation, and AppraisalR01LM014344 · NLM · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Yong Chen, Yifan Peng · 2023 to 2026
$2.7M
Extraction and summarization of evidence-based medicineR01LM014573 · NLM · WEILL MEDICAL COLL OF CORNELL UNIV · PI Yifan Peng, CHUNHUA WENG · 2024 to 2026
$1.1M
NCATS NIH HHS UL1 TR001873NCATS NIH HHS UL1 TR002384NHGRI NIH HHS R01 HG012655NLM NIH HHS R01 LM014344NLM NIH HHS R01 LM014573
6 · The paper itself

Abstract

Variant classification and reclassification are fundamental to advancing precision medicine. This study focuses on the reclassifications of variants of uncertain significance (VUS) in

Indexed as

genetic variantmeta-researchmutationvariant reclassification

Identifiers

PMID40297433
PMCPMC12036420

What OpenQuestion holds

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LicenceCC BY
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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.