Evidence map›Paper›PMID 38826236›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.

Sek Won Kong, In-Hee Lee, Lauren V Collen, Arjun K Manrai, Scott B Snapper, Kenneth D Mandl

Abstract readPreprint
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

5 · Who and what money

Authors and funding

6 authors.

Sek Won KongComputational Health Informatics Program, Boston Children's Hospital, Boston, MA 02215.ORCID 0000-0003-4877-7567
In-Hee LeeComputational Health Informatics Program, Boston Children's Hospital, Boston, MA 02215.ORCID 0000-0002-8857-1355
Lauren V CollenDepartment of Pediatrics, Harvard Medical School, Boston, MA 02115.
Arjun K ManraiDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA 02115.
Scott B SnapperDepartment of Pediatrics, Harvard Medical School, Boston, MA 02115.
Kenneth D MandlComputational Health Informatics Program, Boston Children's Hospital, Boston, MA 02215.ORCID 0000-0002-9781-0477

Funding

STRUCTURE-FUNCTION RELATIONSHIPS IN THE ALIMENTARY TRACTP30DK034854 · NIDDK · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI JONATHAN C KAGAN · 1986 to 2026
$32.4M
Identifying Immune and Epithelial Network Signatures in Very Early Onset Inflammatory Bowel DiseaseRC2DK122532 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI KLEIN, CHRISTOPH, MUISE, ALEIXO M · 2020 to 2024
$9.1M
Instrumenting the Delivery System for a Genomics Research Information CommonsU01TR002623 · NCATS · BOSTON CHILDREN'S HOSPITAL · PI MANDL, KENNETH D. · 2019 to 2024
$8.6M
Human iPSC-Based Personalized Cell Therapy of PDR01NS129188 · NINDS · MCLEAN HOSPITAL · PI Kwang-Soo Kim, Sek Won Kong · 2023 to 2026
$2.8M
NCATS NIH HHS U01 TR002623NIDDK NIH HHS P30 DK034854NIDDK NIH HHS RC2 DK122532NINDS NIH HHS R01 NS129188
6 · The paper itself

Abstract

Genetic testing has become an essential component in the diagnosis and management of a wide range of clinical conditions, from cancer to developmental disorders, especially in rare Mendelian diseases. Efforts to identify rare phenotype-associated variants have predominantly focused on protein-truncating variants, while the interpretation of missense variants presents a considerable challenge. Deep learning algorithms excel in various applications across biomedical tasks

Identifiers

PMID38826236
PMCPMC11142383

What Socratic 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 Socratic graph.