Evidence map›Paper›PMID 36675693›Full record

ArticleJournal of personalized medicine2022

Whole-Exome Sequencing Identifies Genetic Variants for Severe Adolescent Idiopathic Scoliosis in a Taiwanese Population.

Min-Rou Lin, Po-Hsin Chou, Kuei-Jung Huang, Jafit Ting, Chia-Ying Liu, Wan-Hsuan Chou, Gan-Hong Lin, Jan-Gowth Chang, Shiro Ikegawa, Shih-Tien Wang and 1 more

Open access · goldAbstract read
In one paragraph

Article in Journal of personalized medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.1field-weighted citation impact, top 19% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
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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

11 authors at 5 institutions in 2 countries.

Min-Rou LinDepartment of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 110, Taiwan.ORCID 0000-0003-0247-1984
Po-Hsin ChouDepartment of Orthopedics and Traumatology, Taipei Veterans General Hospital, Taipei 112, Taiwan.
Kuei-Jung HuangDepartment of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 110, Taiwan.
Jafit TingDepartment of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 110, Taiwan.ORCID 0000-0001-7918-8218
Chia-Ying LiuDepartment of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 110, Taiwan.
Wan-Hsuan ChouDepartment of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 110, Taiwan.ORCID 0000-0002-7693-5959
Gan-Hong LinMaster Program in Clinical Genomics and Proteomics, School of Pharmacy, Taipei Medical University, Taipei 110, Taiwan.ORCID 0000-0003-1735-8255
Jan-Gowth ChangCenter for Precision Medicine, China Medical University Hospital, Taichung 404, Taiwan.ORCID 0000-0003-0375-1427
Shiro IkegawaDepartment of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 110, Taiwan.
Shih-Tien WangDepartment of Orthopedics and Traumatology, Taipei Veterans General Hospital, Taipei 112, Taiwan.ORCID 0000-0002-0942-8332
Wei-Chiao ChangDepartment of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei 110, Taiwan.
Taipei Medical University · TWNational Yang Ming Chiao Tung University · TWChina Medical University · TWRIKEN Center for Integrative Medical Sciences · JPWan Fang Hospital · TW

Funding

Ministry of Science and Technology, Taiwan MOST 110-2314-B-038-161Ministry of Science and Technology, Taiwan MOST 110-2321-B-038-002Ministry of Science and Technology, Taiwan MOST 110-2628-B-038-020Taipei Veterans General Hospital V105E20-001-MY2
6 · The paper itself

Abstract

Adolescent idiopathic scoliosis (AIS) is a three-dimensional spinal curvature deformity that appears in the adolescent period. In this study, we performed whole-exome sequencing on 11 unrelated Taiwanese patients with a Cobb's angle greater than 40 degrees. Our results identified more than 200 potential pathogenic rare variants, however, most of which were carried only by one individual. By in silico pathogenicity annotation studies, we found that

Indexed as

adolescent idiopathic scoliosisCLCN1SOX8TTNwhole-exome sequencing

Identifiers

PMID36675693
PMCPMC9865588
OpenAlexW4313245110

What OpenQuestion holds

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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.