ArticleCurrent genomics2010
Saturation of the human phenome.
Article in Current genomics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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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.
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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.
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Who cites it
16 citing papers in PubMed, 31 citations in OpenAlex.
- Review
- The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness.Orphanet journal of rare diseases · 2021Article
- Genetic counseling in the context of Bangladesh: current scenario, challenges, and a framework for genetic service implementation.Orphanet journal of rare diseases · 2021Review
- The extracellular matrix phenome across species.Matrix biology plus · 2020Article
- High dimensional model representation of log likelihood ratio: binary classification with SNP data.BMC medical genomics · 2020Article
- Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.Nature communications · 2020Article
- Genetic Modifiers and Rare Mendelian Disease.Genes · 2020Review
- Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Clinical exome sequencing: results from 2819 samples reflecting 1000 families.European journal of human genetics : EJHG · 2017Article
- Genetic mosaics and the germ line lineage.Genes · 2015Review
- FLAGS, frequently mutated genes in public exomes.BMC medical genomics · 2014Article
- Personal genomes, participatory genomics and the anonymity-privacy conundrum.Journal of genetics · 2014Article
- Article
- FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.American journal of human genetics · 2014Article
- Rare-disease genetics in the era of next-generation sequencing: discovery to translation.Nature reviews. Genetics · 2013Review
- The future is now for rare genetic diseases.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The phenome is the complete set of phenotypes resulting from genetic variation in populations of an organism. Saturation of a phenome implies the identification and phenotypic description of mutations in all genes in an organism, potentially constrained to those encoding proteins. The human genome is believed to contain 20-25,000 protein coding genes, but only a small fraction of these have documented mutant phenotypes, thus the human phenome is far from complete. In model organisms, genetic saturation entails the identification of multiple mutant alleles of a gene or locus, allowing a consistent description of mutational phenotypes for that gene. Saturation of several model organisms has been attempted, usually by targeting annotated coding genes with insertional transposons (Drosophila melanogaster, Mus musculus) or by sequence directed deletion (Saccharomyces cerevisiae) or using libraries of antisense oligonucleotide probes injected directly into animals (Caenorhabditis elegans, Danio rerio). This paper reviews the general state of the human phenome, and discusses theoretical and practical considerations toward a saturation analysis in humans. Throughout, emphasis is placed on high penetrance genetic variation, of the kind typically asociated with monogenic versus complex traits.
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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.