Evidence map›Paper›PMID 34354426›Full record

ArticleSaudi journal of biological sciences2021

Whole exome sequencing, in silico and functional studies confirm the association of the

Mona Mahfood, Jihen Chouchen, Walaa Kamal Eddine Ahmad Mohamed, Abdullah Al Mutery, Rania Harati, Abdelaziz Tlili

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Saudi journal of biological sciences, 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
1.1field-weighted citation impact, top 29% 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, 10 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Review
  6. 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

6 authors at 1 institution in 1 country.

Mona MahfoodDepartment of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.
Jihen ChouchenHuman Genetics and Stem Cell Research Group, Research Institute of Sciences and Engineering, University of Sharjah, Sharjah, United Arab Emirates.
Walaa Kamal Eddine Ahmad MohamedHuman Genetics and Stem Cell Research Group, Research Institute of Sciences and Engineering, University of Sharjah, Sharjah, United Arab Emirates.
Abdullah Al MuteryDepartment of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.
Rania HaratiDepartment of Pharmacy Practice and Pharmacotherapeutics, College of Pharmacy, University of Sharjah, Sharjah, United Arab Emirates.
Abdelaziz TliliDepartment of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.
University of Sharjah · AE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The development of next generation sequencing techniques has facilitated the detection of mutations at an unprecedented rate. These efficient tools have been particularly beneficial for extremely heterogeneous disorders such as autosomal recessive non-syndromic hearing loss, the most common form of genetic deafness.

Indexed as

Actb, Actin betaARNSHL, autosomal recessive non-syndromic hearing lossBAM, Binary Alignment MapBWA, Burrows-Wheeler AlignerC1QTNF9, C1q and TNF related 9Cx26, Connexin 26dpSNP, Single Nucleotide Polymorphism DatabaseESRRAP2, Estrogen-Related Receptor Alpha Pseudogene 2gEAR, gene Expression Analysis ResourceGJB2, Gap Junction Protein Beta 2GJB2 genegnomAD, genome aggregation databaseHHLA1, HERV-H LTR-Associating 1HL, Hearing lossKCNQ3, Potassium Voltage-Gated Channel Subfamily Q Member 3Missense mutationNGS, next generation sequencingNon-syndromic hearing lossNSHL, Non-syndromic hearing lossPolyPhen-2, Polymorphism Phenotyping v2PROVEAN, Protein Variation Effect AnalyzerqPCR, quantitative PCRRFLP, restriction fragment length polymorphismROH, runs of homozygosityRT-PCR, reverse transcription PCRRT-qPCR, quantitative reverse transcription PCRSAM, Sequence Alignment/MapSIFT, Sorting Intolerant From TolerantSJL, Swiss Jim LambertSPATA13, Spermatogenesis Associated 13ST3GAL1, ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 1TMEM59, Transmembrane Protein 59UAE, United Arab EmiratesVariMAT, Variation and Mutation Annotation ToolkitWES, Whole exome sequencingWhole exome sequencing

Identifiers

PMID34354426
PMCPMC8324942
OpenAlexW3156143559

What OpenQuestion 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 OpenQuestion graph.