Evidence map›Paper›PMID 30558461›Full record

ArticleJournal of feline medicine and surgery2019

Precision medicine validation: identifying the

Eric S Ontiveros, Yu Ueda, Samantha P Harris, Joshua A Stern, 99 Lives Consortium

Open access · greenAbstract readValidation Study
In one paragraph

Article in Journal of feline medicine and surgery, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
1.6field-weighted citation impact, top 15% 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

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Journal of feline medicine and surgery · 2023
    Article
  4. Article
  5. Article
  6. Article
  7. A Deletion inGenes · 2020
    Article
  8. 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

5 authors at 2 institutions in 1 country.

Eric S OntiverosDepartment of Medicine and Epidemiology, School of Veterinary Medicine, University of California, Davis, CA, USA.
Yu UedaDepartment of Medicine and Epidemiology, School of Veterinary Medicine, University of California, Davis, CA, USA.
Samantha P HarrisDepartment of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ, USA.
Joshua A SternDepartment of Medicine and Epidemiology, School of Veterinary Medicine, University of California, Davis, CA, USA.ORCID 0000-0001-5611-5745
99 Lives Consortium
University of California, Davis · USUniversity of Arizona · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesThe objective of this study was to perform a proof-of-concept experiment that validates a precision medicine approach to identify variants associated with hypertrophic cardiomyopathy (HCM). We hypothesized that whole-genome sequencing would identify variant(s) associated with HCM in two affected Maine Coon/Maine Coon cross cats when compared with 79 controls of various breeds.

methodsTwo affected and two control Maine Coon/Maine Coon cross cats had whole-genome sequencing performed at approximately × 30 coverage. Variants were called in these four cats and 77 cats of various breeds as part of the 99 Lives Cat Genome Sequencing Initiative ( http://felinegenetics.missouri.edu/99lives ) using Platypus v0.7.9.1, annotated with dbSNP ID, and variants' effect predicted by SnpEff. Strict filtering criteria (alternate allele frequency >49%) were applied to identify homozygous-alternate or heterozygous variants in the two HCM-affected samples when compared with 79 controls of various breeds.

resultsA total of four variants were identified in the two Maine Coon/Maine Coon cross cats with HCM when compared with 79 controls after strict filtering. Three of the variants identified in genes CONCLUSIONS AND RELEVANCE: This proof-of-concept experiment identified the previously reported

Indexed as

AnimalsCardiomyopathy, HypertrophicCarrier ProteinsCat DiseasesCatsGenetic Predisposition to DiseaseMutationMyosin Binding Protein CPrecision MedicineWhole Genome SequencingCarrier ProteinsMyosin Binding Protein CHCMindividualized medicinenext-generation sequencingWGS

Identifiers

PMID30558461
PMCPMC10814263
OpenAlexW2905117281

What OpenQuestion holds

Textmetadata
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.