ReviewMammalian genome : official journal of the International Mammalian Genome Society2015
Disease insights through cross-species phenotype comparisons.
Review in Mammalian genome : official journal of the International Mammalian Genome Society, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Computational resources associating diseases with genotypes, phenotypes and exposures.Briefings in bioinformatics · 2019Pooled it
- GWAS Central: an expanding resource for finding and visualising genotype and phenotype data from genome-wide association studies.Nucleic acids research · 2023Article
- Transforming the study of organisms: Phenomic data models and knowledge bases.PLoS computational biology · 2020Review
- BioHackathon 2015: Semantics of data for life sciences and reproducible research.F1000Research · 2020Article
- GTX.Digest.VCF: an online NGS data interpretation system based on intelligent gene ranking and large-scale text mining.BMC medical genomics · 2019Article
- The virtuous cycle of human genetics and mouse models in drug discovery.Nature reviews. Drug discovery · 2019Review
- Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases.European journal of human genetics : EJHG · 2018Article
- The Collaborative Cross mouse model for dissecting genetic susceptibility to infectious diseases.Mammalian genome : official journal of the International Mammalian Genome Society · 2018Review
- Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting.Scientific reports · 2017Article
- Article
- Prevalence of sexual dimorphism in mammalian phenotypic traits.Nature communications · 2017Article
- The Zebrafish Model Organism Database: new support for human disease models, mutation details, gene expression phenotypes and searching.Nucleic acids research · 2017Article
- A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.Genome medicine · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
Abstract
New sequencing technologies have ushered in a new era for diagnosis and discovery of new causative mutations for rare diseases. However, the sheer numbers of candidate variants that require interpretation in an exome or genomic analysis are still a challenging prospect. A powerful approach is the comparison of the patient's set of phenotypes (phenotypic profile) to known phenotypic profiles caused by mutations in orthologous genes associated with these variants. The most abundant source of relevant data for this task is available through the efforts of the Mouse Genome Informatics group and the International Mouse Phenotyping Consortium. In this review, we highlight the challenges in comparing human clinical phenotypes with mouse phenotypes and some of the solutions that have been developed by members of the Monarch Initiative. These tools allow the identification of mouse models for known disease-gene associations that may otherwise have been overlooked as well as candidate genes may be prioritized for novel associations. The culmination of these efforts is the Exomiser software package that allows clinical researchers to analyse patient exomes in the context of variant frequency and predicted pathogenicity as well the phenotypic similarity of the patient to any given candidate orthologous gene.
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What OpenQuestion holds
Registered trials
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.