Evidence map›Paper›PMID 36979105›Full record

ArticleBiology2023

Whole-Exome Sequencing in Family Trios Reveals De Novo Mutations Associated with Type 1 Diabetes Mellitus.

Mira Mousa, Sara Albarguthi, Mohammed Albreiki, Zenab Farooq, Sameeha Sajid, Sarah El Hajj Chehadeh, Gihan Daw ElBait, Guan Tay, Asma Al Deeb, Habiba Alsafar

Open access · goldFull text read
In one paragraph

Article in Biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.6field-weighted citation impact, top 18% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
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

10 authors at 1 institution in 1 country.

Mira MousaCenter of Biotechnology, Khalifa University of Science and Technology, Abu Dhabi 127788, United Arab Emirates.ORCID 0000-0002-5676-3221
Sara AlbarguthiCenter of Biotechnology, Khalifa University of Science and Technology, Abu Dhabi 127788, United Arab Emirates.
Mohammed AlbreikiCenter of Biotechnology, Khalifa University of Science and Technology, Abu Dhabi 127788, United Arab Emirates.
Zenab FarooqCollege of Medicine and Health Sciences, Khalifa University, Abu Dhabi 127788, United Arab Emirates.
Sameeha SajidCollege of Medicine and Health Sciences, Khalifa University, Abu Dhabi 127788, United Arab Emirates.
Sarah El Hajj ChehadehCenter of Biotechnology, Khalifa University of Science and Technology, Abu Dhabi 127788, United Arab Emirates.
Gihan Daw ElBaitCenter of Biotechnology, Khalifa University of Science and Technology, Abu Dhabi 127788, United Arab Emirates.
Guan TayCenter of Biotechnology, Khalifa University of Science and Technology, Abu Dhabi 127788, United Arab Emirates.
Asma Al DeebCollege of Medicine and Health Sciences, Khalifa University, Abu Dhabi 127788, United Arab Emirates.
Habiba AlsafarCenter of Biotechnology, Khalifa University of Science and Technology, Abu Dhabi 127788, United Arab Emirates.ORCID 0000-0001-7141-1438
Khalifa University of Science and Technology · AE

Funding

Khalifa University of Science and Technology KUIRFL1
6 · The paper itself

Abstract

Type 1 diabetes mellitus (T1DM) is a chronic autoimmune disease characterized by insulin deficiency and loss of pancreatic islet β-cells. The objective of this study is to identify de novo mutations in 13 trios from singleton families that contribute to the genetic basis of T1DM through the application of whole-exome sequencing (WES). Of the 13 families sampled for this project, 12 had de novo variants, with Family 7 having the highest number (nine) of variants linked to T1DM/autoimmune pathways, whilst Family 4 did not have any variants past the filtering steps. There were 10 variants of 7 genes reportedly associated with T1DM (

Indexed as

case–parent triosde novo variantsdiabetesfamily triosT1Dtype 1 diabetesWES

Identifiers

PMID36979105
PMCPMC10044903
OpenAlexW4323569435

What Socratic holds

Textfull text, public
LicenceCC BY
measurements read20
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.