Evidence map›Paper›PMID 26374634›Full record

ArticleBMC nephrology2015

A protocol for the identification and validation of novel genetic causes of kidney disease.

Andrew Mallett, Chirag Patel, Barbara Maier, Julie McGaughran, Michael Gabbett, Minoru Takasato, Anne Cameron, Peter Trnka, Stephen I Alexander, Gopala Rangan and 12 more

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

Article in BMC nephrology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.8field-weighted citation impact, top 28% 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

7 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Review
  7. Article
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

22 authors at 10 institutions in 1 country.

Andrew MallettKidney Health Service and Conjoint Kidney Research Laboratory, Royal Brisbane and Women's Hospital, Brisbane, Australia. Andrew.mallett@health.qld.gov.au.
Chirag PatelGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.
Barbara MaierInstitute for Molecular Bioscience, The University of Queensland, St Lucia, Australia.
Julie McGaughranGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.
Michael GabbettGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.
Minoru TakasatoInstitute for Molecular Bioscience, The University of Queensland, St Lucia, Australia.
Anne CameronCentre for Kidney Disease Research, Centre for Chronic Disease and CKD.QLD, School of Medicine, The University of Queensland, St Lucia, Australia.
Peter TrnkaQueensland Child and Adolescent Renal Service, Lady Cilento Children's Hospital, Brisbane, Australia.
Stephen I AlexanderDepartment of Nephrology, Children's Hospital at Westmead, Sydney and Sydney Medical School, The University of Sydney, Sydney, Australia.
Gopala RanganDepartment of Nephrology, Westmead Hospital, Sydney and Sydney Medical School, The University of Sydney, Sydney, Australia.
Michel C TchanDepartment of Genetic Medicine, Westmead Hospital, Sydney and Sydney Medical School, The University of Sydney, Sydney, Australia.
Georgina CaruanaDepartment of Anatomy and Developmental Biology, School of Biomedical Sciences, Monash University, Melbourne, Australia.
George JohnKidney Health Service and Conjoint Kidney Research Laboratory, Royal Brisbane and Women's Hospital, Brisbane, Australia.
Cathy QuinlanDepartment of Nephrology, Royal Children's Hospital, Melbourne, Australia.
Hugh J McCarthyDepartment of Nephrology, Children's Hospital at Westmead, Sydney and Sydney Medical School, The University of Sydney, Sydney, Australia.
Valentine HylandMolecular Genetics Laboratory, Pathology Queensland and Royal Brisbane and Women's Hospital, Brisbane, Australia.
Wendy E HoyCentre for Kidney Disease Research, Centre for Chronic Disease and CKD.QLD, School of Medicine, The University of Queensland, St Lucia, Australia.
Ernst WolvetangAustralian Institute for Bioengineering and Nanotechnology, The University of Queensland, St Lucia, Australia.
Ryan TaftInstitute for Molecular Bioscience, The University of Queensland, St Lucia, Australia.
Cas SimonsInstitute for Molecular Bioscience, The University of Queensland, St Lucia, Australia.
Helen HealyKidney Health Service and Conjoint Kidney Research Laboratory, Royal Brisbane and Women's Hospital, Brisbane, Australia.
Melissa LittleInstitute for Molecular Bioscience, The University of Queensland, St Lucia, Australia.
The University of Queensland · AURoyal Brisbane and Women's Hospital · AUChildren's Hospital at Westmead · AURoyal Children's Hospital · AUGriffith University · AUMonash University · AUMurdoch Children's Research Institute · AUQueensland Children’s Hospital · AUSydney Hospital · AUWestmead Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGenetic renal diseases (GRD) are a heterogeneous and incompletely understood group of disorders accounting for approximately 10 % of those diagnosed with kidney disease. The advent of Next Generation sequencing and new approaches to disease modelling may allow the identification and validation of novel genetic variants in patients with previously incompletely explained or understood GRD. METHODS/

designThis study will recruit participants in families/trios from a multidisciplinary sub-specialty Renal Genetics Clinic where known genetic causes of GRD have been excluded or where genetic testing is not available. After informed patient consent, whole exome and/or genome sequencing will be performed with bioinformatics analysis undertaken using a customised variant assessment tool. A rigorous process for participant data management will be undertaken. Novel genetic findings will be validated using patient-derived induced pluripotent stem cells via differentiation to renal and relevant extra-renal tissue phenotypes in vitro. A process for managing the risk of incidental findings and the return of study results to participants has been developed. DISCUSSION: This investigator-initiated approach brings together experts in nephrology, clinical and molecular genetics, pathology and developmental biology to discover and validate novel genetic causes for patients in Australia affected by GRD without a known genetic aetiology or pathobiology.

Indexed as

HumansKidney DiseasesResearch DesignValidation Studies as Topic

Identifiers

PMID26374634
PMCPMC4570515
OpenAlexW2136079089

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.