ArticleHuman mutation2018
Properties of human genes guided by their enrichment in rare and common variants.
Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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.
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Who cites it
11 citing papers in PubMed.
- Shared Disease Mechanisms in Neurodevelopmental Disorders: A Cellular and Molecular Biology Perspective.Brain sciences · 2025Review
- Structural and functional prediction, evaluation, and validation in the post-sequencing era.Computational and structural biotechnology journal · 2024Review
- Whole-exome Sequencing Analysis of a Japanese Patient With Hyperinsulinemia and Liver Dysfunction.Journal of the Endocrine Society · 2022Article
- Emerging perspectives on multidomain phosphatidylinositol transfer proteins.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2021Review
- Targeted resequencing showing novel common and rare genetic variants increases the risk of asthma in the Chinese Han population.Journal of clinical laboratory analysis · 2021Article
- Pathogenic missense protein variants affect different functional pathways and proteomic features than healthy population variants.PLoS biology · 2021Article
- Protein-Protein Interactions Mediated by Intrinsically Disordered Protein Regions Are Enriched in Missense Mutations.Biomolecules · 2020Article
- A mutation inMolecular vision · 2020Article
- Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated?Journal of molecular biology · 2019Article
- Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality.NPJ genomic medicine · 2019Review
- Properties of human genes guided by their enrichment in rare and common variants.Human mutation · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
We analyzed 563,099 common (minor allele frequency, MAF≥0.01) and rare (MAF < 0.01) genetic variants annotated in ExAC and UniProt and 26,884 disease-causing variants from ClinVar and UniProt occurring in the coding region of 17,975 human protein-coding genes. Three novel sets of genes were identified: those enriched in rare variants (n = 32 genes), in common variants (n = 282 genes), and in disease-causing variants (n = 800 genes). Genes enriched in rare variants have far greater similarities in terms of biological and network properties to genes enriched in disease-causing variants, than to genes enriched in common variants. However, in half of the genes enriched in rare variants (AOC2, MAMDC4, ANKHD1, CDC42BPB, SPAG5, TRRAP, TANC2, IQCH, USP54, SRRM2, DOPEY2, and PITPNM1), no disease-causing variants have been identified in major, publicly available databases. Thus, genetic variants in these genes are strong candidates for disease and their identification, as part of sequencing studies, should prompt further in vitro analyses.
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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.