Evidence map›Paper›PMID 35409265›Full record

ArticleInternational journal of molecular sciences2022

Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.

Benjamin M Nash, Alan Ma, Gladys Ho, Elizabeth Farnsworth, Andre E Minoche, Mark J Cowley, Christopher Barnett, Janine M Smith, To Ha Loi, Karen Wong and 6 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.6field-weighted citation impact, top 37% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

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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

16 authors at 6 institutions in 1 country.

Benjamin M NashEye Genetics Research Unit, Sydney Children's Hospitals Network, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, NSW 2000, Australia.ORCID 0000-0003-4235-5144
Alan MaEye Genetics Research Unit, Sydney Children's Hospitals Network, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, NSW 2000, Australia.
Gladys HoSpecialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia.
Elizabeth FarnsworthSpecialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia.
Andre E MinocheKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
Mark J CowleyKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.ORCID 0000-0002-9519-5714
Christopher BarnettSouth Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA 5006, Australia.
Janine M SmithSpecialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia.
To Ha LoiEye Genetics Research Unit, Sydney Children's Hospitals Network, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, NSW 2000, Australia.
Karen WongSydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia.
Luke St HeapsSpecialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia.
Dale WrightSpecialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia.
Marcel E DingerSchool of Biotechnology and Biomolecular Sciences, Faculty of Science, University of New South Wales, Randwick, NSW 2031, Australia.ORCID 0000-0003-4423-934X
Bruce BennettsSpecialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia.
John R GriggEye Genetics Research Unit, Sydney Children's Hospitals Network, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, NSW 2000, Australia.ORCID 0000-0002-6763-8119
Robyn V JamiesonEye Genetics Research Unit, Sydney Children's Hospitals Network, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, NSW 2000, Australia.ORCID 0000-0002-7285-0253
The University of Sydney · AUGarvan Institute of Medical Research · AUChildren's Medical Research Institute · AUSydney Children’s Hospitals Network · AUUNSW Sydney · AUWomen's and Children's Hospital · AU

Funding

National Health and Medical Research Council APP11166360
6 · The paper itself

Abstract

The inherited retinal dystrophies (IRDs) are a clinically and genetically complex group of disorders primarily affecting the rod and cone photoreceptors or other retinal neuronal layers, with emerging therapies heralding the need for accurate molecular diagnosis. Targeted capture and panel-based strategies examining the partial or full exome deliver molecular diagnoses in many IRD families tested. However, approximately one in three families remain unsolved and unable to obtain personalised recurrence risk or access to new clinical trials or therapy. In this study, we investigated whole genome sequencing (WGS), focused assays and functional studies to assist with unsolved IRD cases and facilitate integration of these approaches to a broad molecular diagnostic clinical service. The WGS approach identified variants not covered or underinvestigated by targeted capture panel-based clinical testing strategies in six families. This included structural variants, with notable benefit of the WGS approach in repetitive regions demonstrated by a family with a hybrid gene and hemizygous missense variant involving the opsin genes,

Indexed as

Retinal DystrophiesATP-Binding Cassette TransportersCalmodulin-Binding ProteinsExomeExome SequencingEye ProteinsHumansMutationPedigreeRNA Splice SitesWhole Genome SequencingABCA4 protein, humanATP-Binding Cassette TransportersCalmodulin-Binding ProteinsEye ProteinsIQCB1 protein, humanRNA Splice SitesRPGR protein, humangene panelsinherited retinal dystrophyRNA analysiswhole genome sequencing

Identifiers

PMID35409265
PMCPMC8999823
OpenAlexW4221077752

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.