Evidence map›Paper›PMID 39669618›Full record

ArticleGenetics in medicine open2024

A homozygous structural variant of

Akiko Suga, Kei Mizobuchi, Taiga Inooka, Kazutoshi Yoshitake, Naoko Minematsu, Kazushige Tsunoda, Kazuki Kuniyoshi, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Observational
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

14 authors.

Akiko SugaDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
Kei MizobuchiDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Taiga InookaDepartment of Ophthalmology, Nagoya University Graduate School of Medicine, Aichi, Japan.
Kazutoshi YoshitakeLaboratory of Aquatic Molecular Biology and Biotechnology, Aquatic Bioscience, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Tokyo, Japan.
Naoko MinematsuDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
Kazushige TsunodaDivision of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
Kazuki KuniyoshiDepartment of Ophthalmology, Kindai University Faculty of Medicine, Osaka, Japan.
Yosuke KawaiGenome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan.
Yosuke OmaeGenome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan.
Katsushi TokunagaGenome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan.
NCBN Controls WGS Consortium
Takaaki HayashiDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Shinji UenoDepartment of Ophthalmology, Hirosaki University Graduate School of Medicine, Aomori, Japan.
Takeshi IwataDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.

Funding

Wellcome Trust FC001029
6 · The paper itself

Abstract

Purpose: Achromatopsia (ACHM) is an early-onset cone dysfunction caused by 5 genes with cone-specific functions ( Methods: Genome sequencing of 10 ACHM pedigrees was performed after exome sequencing. Structural, non-coding, and coding variants were filtered based on segregation between the affected and unaffected in each pedigree. Variant frequency and predicted damage scores were considered in identifying pathogenic variants. Results: A homozygous deletion involving exon 18 of Conclusion: The deletion involving exon 18 of

Indexed as

AchromatopsiaGenome sequencingRPGRIP1Structural variant

Identifiers

PMID39669618
PMCPMC11613597

What Socratic 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 Socratic graph.