Evidence map›Paper›PMID 33374967›Full record

Observational studyGenes2020

Whole Exome Sequencing Identifies Novel De Novo Variants Interacting with Six Gene Networks in Autism Spectrum Disorder.

Namshin Kim, Kyoung Hyoun Kim, Won-Jun Lim, Jiwoong Kim, Soon Ae Kim, Hee Jeong Yoo

Open access · goldAbstract readObservational Study
In one paragraph

Observational study in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 1 pooled it
2.6field-weighted citation impact, top 10% 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

14 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.

  1. Meta-Analysis IdentifiesInternational journal of molecular sciences · 2022
    Pooled it
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. BiallelicHeliyon · 2024
    Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. Review
  13. Molecular Dysregulation in Autism Spectrum Disorder.Journal of personalized medicine · 2021
    Review
  14. 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 4 institutions in 2 countries.

Namshin KimGenome Editing Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Korea.ORCID 0000-0001-6361-274X
Kyoung Hyoun KimGenome Editing Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Korea.ORCID 0000-0002-7652-1879
Won-Jun LimGenome Editing Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Korea.
Jiwoong KimQuantitative Biomedical Research Center, Department of Clinical Sciences, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Soon Ae KimDepartment of Pharmacology, School of Medicine, Eulji University, Daejeon 34824, Korea.
Hee Jeong YooDepartment of Psychiatry, College of Medicine, Seoul National University, Seoul 03080, Korea.
Korea Research Institute of Bioscience and Biotechnology · KREulji University · KRSeoul National University · KRThe University of Texas Southwestern Medical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a highly heritable condition caused by a combination of environmental and genetic factors such as de novo and inherited variants, as well as rare or common variants among hundreds of related genes. Previous genome-wide association studies have identified susceptibility genes; however, most ASD-associated genes remain undiscovered. This study aimed to examine rare de novo variants to identify genetic risk factors of ASD using whole exome sequencing (WES), functional characterization, and genetic network analyses of identified variants using Korean familial dataset. We recruited children with ASD and their biological parents. The clinical best estimate diagnosis of ASD was made according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-5

Indexed as

Gene Regulatory NetworksGenetic Predisposition to DiseaseAsian PeopleAutism Spectrum DisorderChildChild, PreschoolComputational BiologyExomeExome SequencingFemaleGene FrequencyGenome-Wide Association StudyHumansMaleMutationRepublic of Koreaautism spectrum disorderde novo variantskorean cohortwhole exome sequencing

Identifiers

PMID33374967
PMCPMC7822011
OpenAlexW3114034193

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.