Evidence map›Paper›PMID 40225919›Full record

ArticleHuman mutation2024

Characterisation of a LINE-1 Insertion in the

Michael P Backlund, Pauliina Repo, Harri Kangas, Kati Donner, Eeva-Marja Sankila, Julia Krootila, Maarjaliis Paavo, Kirmo Wartiovaara, Tero T Kivelä, Joni A Turunen

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In one paragraph

Article in Human mutation, 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. 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

10 authors.

Michael P BacklundEye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland.ORCID 0000-0003-0498-955X
Pauliina RepoEye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland.
Harri KangasInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Kati DonnerInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Eeva-Marja SankilaDepartment of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Julia KrootilaEye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland.
Maarjaliis PaavoDepartment of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Kirmo WartiovaaraDepartment of Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Tero T KiveläDepartment of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Joni A TurunenEye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland.ORCID 0000-0002-9569-9146

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Retinitis pigmentosa (RP) is a group of inherited degenerative retinal disorders affecting more than 1.5 million people worldwide. For 30-50% of individuals with RP, the genetic cause remains unresolved by current clinical diagnostic gene panels. It is likely explained by variants in novel RP-associated genes or noncoding regulatory regions, or by complex genetic alterations such as large structural variants. Recent developments in long-read sequencing techniques have opened an opportunity for efficient analysis of complex genetic variants. We analysed a Finnish family with dominantly inherited RP affecting six individuals in three generations. Two affected individuals underwent a comprehensive clinical examination in combination with a clinical diagnostic gene panel, followed by whole exome sequencing in our laboratory. They exhibited typical signs of RP, yet initial sequence analysis found no causative variants. Reanalysis of the sequencing data detected a LINE-1 (L1) retrotransposon insertion of unknown size in exon 4 of the RP1 axonemal microtubule-associated (

Indexed as

Eye ProteinsLong Interspersed Nucleotide ElementsMicrotubule-Associated ProteinsMutagenesis, InsertionalNanopore SequencingRetinitis PigmentosaAdultExome SequencingExonsFemaleFinlandHumansMaleMiddle AgedPedigreeEye ProteinsMicrotubule-Associated ProteinsRP1 protein, human

Identifiers

PMID40225919
PMCPMC11919084

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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.