Evidence map›Paper›PMID 33628342›Full record

ArticleDisease markers2021

Next Generation Exome Sequencing of Pediatric Asthma Identifies Rare and Novel Variants in Candidate Genes.

Neda M Bogari, Amr A Amin, Husni H Rayes, Ahmed Abdelmotelb, Mohiuddin M Taher, Faisal A Al-Allaf, Abdellatif Bouazzaoui, Luke O'Gorman, John W Holloway

Open access · hybridAbstract read
In one paragraph

Article in Disease markers, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.2field-weighted citation impact, top 23% 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

6 citing papers in PubMed, 11 citations in OpenAlex.

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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

9 authors at 5 institutions in 3 countries.

Neda M BogariFaculty of Medicine, Department of Medical Genetics, Umm Al Qura University, Makkah, Saudi Arabia.ORCID https://orcid.org/0000-0002-7071-0492
Amr A AminFaculty of Medicine, Biochemistry Department, Umm Al Qura University, Makkah, Saudi Arabia.ORCID https://orcid.org/0000-0002-8694-1500
Husni H RayesMaternity Children Hospital, Makkah, Saudi Arabia.
Ahmed AbdelmotelbDepartment of Pharmacology, Faculty of Medicine, University of Tanta, Tanta, Egypt.
Mohiuddin M TaherFaculty of Medicine, Department of Medical Genetics, Umm Al Qura University, Makkah, Saudi Arabia.ORCID https://orcid.org/0000-0003-3044-3809
Faisal A Al-AllafFaculty of Medicine, Department of Medical Genetics, Umm Al Qura University, Makkah, Saudi Arabia.
Abdellatif BouazzaouiFaculty of Medicine, Department of Medical Genetics, Umm Al Qura University, Makkah, Saudi Arabia.ORCID https://orcid.org/0000-0003-4399-3463
Luke O'GormanHuman Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
John W HollowayHuman Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.ORCID https://orcid.org/0000-0001-9998-0464
Umm al-Qura University · SAUniversity of Southampton · GBAin Shams University · EGMaternity and Children's Hospital · SATanta University · EG

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multiple genes have been implicated to have a role in asthma predisposition by association studies. Pediatric patients often manifest a more extensive form of this disease and a particularly severe disease course. It is likely that genetic predisposition could play a more substantial role in this group. This study is aimed at identifying the spectrum of rare and novel variation in known pediatric asthma susceptibility genes using whole exome sequencing analysis in nine individual cases of childhood onset allergic asthma. DNA samples from the nine children with a history of bronchial asthma diagnosis underwent whole exome sequencing on Ion Proton. For each patient, the entire complement of rare variation within strongly associated candidate genes was catalogued. The analysis showed 21 variants in the subjects, 13 had been previously identified, and 8 were novel. Also, among of which, nineteen were nonsynonymous and 2 were nonsense. With regard to the novel variants, the 2 nonsynonymous variants in the

Indexed as

Genetic Predisposition to DiseasePolymorphism, GeneticAdaptor Proteins, Signal TransducingAdolescentAge of OnsetAsthmaChildChild, PreschoolCohort StudiesCyclic GMP-Dependent Protein Kinase Type IExome SequencingFemaleGenome-Wide Association StudyHumansMalePhenotypeAdaptor Proteins, Signal TransducingCyclic GMP-Dependent Protein Kinase Type IMAVS protein, humanPRKG1 protein, human

Identifiers

PMID33628342
PMCPMC7888305
OpenAlexW3119282002

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.