Evidence map›Paper›PMID 38752292›Full record

ArticleDatabase : the journal of biological databases and curation2024

CardioHotspots: a database of mutational hotspots for cardiac disorders.

Alberto García S, Mireia Costa, Alba García-Zarzoso, Oscar Pastor

Erratum issuedAbstract read
In one paragraph

Article in Database : the journal of biological databases and curation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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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

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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

4 authors.

Alberto García SORCID 0000-0002-8038-7430
Mireia CostaPROS Research Center, VRAIN, Polytechnic University of Valencia, Camino de Vera S/N, Valencia 46022, Spain.ORCID 0000-0002-8614-0914
Alba García-ZarzosoPROS Research Center, VRAIN, Polytechnic University of Valencia, Camino de Vera S/N, Valencia 46022, Spain.
Oscar PastorPROS Research Center, VRAIN, Polytechnic University of Valencia, Camino de Vera S/N, Valencia 46022, Spain.ORCID 0000-0002-1320-8471

Funding

Agencia Estatal de Investigación PDC2021-121243-I00,MICIN/AEI/10.13039/501 10001103 PID2021-123824OB-I00Generalitat Valenciana ACIF/2021/117 CIPROM/2021/023
6 · The paper itself

Abstract

Mutational hotspots are DNA regions with an abnormally high frequency of genetic variants. Identifying whether a variant is located in a mutational hotspot is critical for determining the variant's role in disorder predisposition, development, and treatment response. Despite their significance, current databases on mutational hotspots are limited to the oncology domain. However, identifying mutational hotspots is critical for any disorder in which genetics plays a role. This is true for the world's leading cause of death: cardiac disorders. In this work, we present CardioHotspots, a literature-based database of manually curated hotspots for cardiac diseases. This is the only database we know of that provides high-quality and easily accessible information about hotspots associated with cardiac disorders. CardioHotspots is publicly accessible via a web-based platform (https://genomics-hub.pros.dsic.upv.es:3099/). Database URL: https://genomics-hub.pros.dsic.upv.es:3099/.

Indexed as

Databases, GeneticHeart DiseasesMutationHumans

Identifiers

PMID38752292
PMCPMC11096770

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.