Evidence map›Paper›PMID 34828413›Full record

ArticleGenes2021

Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia.

Juliana Lago, Helena Groot, Diego Navas, Paula Lago, María Gamboa, Dayana Calderón, Diana C Polanía-Villanueva

Open access · goldAbstract read
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 82% of its field
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

1 citing paper in PubMed, 0 citations in OpenAlex.

  1. Review
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

7 authors at 3 institutions in 2 countries.

Juliana LagoLaboratorio de Genética Humana, Universidad de Los Andes, Bogotá 111711, Colombia.ORCID 0000-0003-3808-1689
Helena GrootLaboratorio de Genética Humana, Universidad de Los Andes, Bogotá 111711, Colombia.
Diego NavasLaboratorio de Genética Humana, Universidad de Los Andes, Bogotá 111711, Colombia.ORCID 0000-0001-5524-8503
Paula LagoDepartment of Basic Sciences, Kyushu Institute of Technology, Kitakyushu 804-8550, Japan.ORCID 0000-0001-5290-6486
María GamboaLaboratorio de Referencia en Hemostasia, Bogotá 110231, Colombia.
Dayana CalderónCorporación Corpogen, Universidad Central, Bogotá 110311, Colombia.
Diana C Polanía-VillanuevaLaboratorio de Genética Humana, Universidad de Los Andes, Bogotá 111711, Colombia.ORCID 0000-0002-7846-2948
Universidad de Los Andes · COCentral University · COKyushu Institute of Technology · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inherited bleeding disorders (IBDs) are the most frequent congenital diseases in the Colombian population; three of them are hemophilia A (HA), hemophilia B (HB), and von Willebrand Disease (VWD). Currently, diagnosis relies on multiple clinical laboratory assays to assign a phenotype. Due to the lack of accessibility to these tests, patients can receive an incomplete diagnosis. In these cases, genetic studies reinforce the clinical diagnosis. The present study characterized the molecular genetic basis of 11 HA, three HB, and five VWD patients by sequencing the

Indexed as

Blood Coagulation Disorders, InheritedColombiaComputational BiologyCosts and Cost AnalysisFactor IXGenetic TestingHemophilia AHumansProtein DomainsSensitivity and Specificityvon Willebrand FactorFactor IXvon Willebrand Factordenaturation domaingenetic diagnosishemophiliahigh-resolution melting (HRM)Python codevon Willebrand Disease (VWD)

Identifiers

PMID34828413
PMCPMC8625804
OpenAlexW3213554137

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.