ArticlePLoS genetics2013
From mouse to human: evolutionary genomics analysis of human orthologs of essential genes.
Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 124 papers.
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Who cites it
124 citing papers in PubMed.
- Minimally Invasive Free-Breathing Gating-Free Extracellular Cellular Volume Quantification for Repetitive Myocardial Fibrosis Evaluation in Rodents.Biomolecules · 2025Article
- Proteome-wide model for human disease genetics.Nature genetics · 2025Article
- Neuromodulation of voltage-gated sodium channels by Gβ1γ2 subunits: Implications for GNB1-linked encephalopathy.Neurobiology of disease · 2025Article
- Systematic comparison and base-editing-mediated directed protein evolution and functional screening yield superior auxin-inducible degron technology.Nature communications · 2025Article
- Human essential gene identification based on feature fusion and feature screening.IET systems biology · 2024Article
- Embryonic Lethal Phenotyping to Identify Candidate Genes Related with Birth Defects.International journal of molecular sciences · 2024Article
- Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank.Cell genomics · 2024Article
- Lethal phenotypes in Mendelian disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Fine-mapping causal tissues and genes at disease-associated loci.medRxiv : the preprint server for health sciences · 2024Article
- Computational identification of disease models through cross-species phenotype comparison.Disease models & mechanisms · 2024Article
- Essentiality, protein-protein interactions and evolutionary properties are key predictors for identifying cancer-associated genes using machine learning.Scientific reports · 2024Article
- Ancestry-specific high-risk gene variant profiling unmasks diabetes-associated genes.Human molecular genetics · 2024Article
- Lethal phenotypes in Mendelian disorders.medRxiv : the preprint server for health sciences · 2024Article
- Inferring compound heterozygosity from large-scale exome sequencing data.Nature genetics · 2024Article
- 'Bingo'-a large language model- and graph neural network-based workflow for the prediction of essential genes from protein data.Briefings in bioinformatics · 2023Article
- Inferring compound heterozygosity from large-scale exome sequencing data.bioRxiv : the preprint server for biology · 2023Article
- PINNED: identifying characteristics of druggable human proteins using an interpretable neural network.Journal of cheminformatics · 2023Article
- Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank.medRxiv : the preprint server for health sciences · 2023Article
- Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank.Nature genetics · 2023Article
- Robustness of quantifying mediating effects of genetically regulated expression on complex traits with mediated expression score regression.Biology methods & protocols · 2023Review
64 more citing papers are in PubMed but not listed here.
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3 authors.
Funding
Abstract
Understanding the core set of genes that are necessary for basic developmental functions is one of the central goals in biology. Studies in model organisms identified a significant fraction of essential genes through the analysis of null-mutations that lead to lethality. Recent large-scale next-generation sequencing efforts have provided unprecedented data on genetic variation in human. However, evolutionary and genomic characteristics of human essential genes have never been directly studied on a genome-wide scale. Here we use detailed phenotypic resources available for the mouse and deep genomics sequencing data from human populations to characterize patterns of genetic variation and mutational burden in a set of 2,472 human orthologs of known essential genes in the mouse. Consistent with the action of strong, purifying selection, these genes exhibit comparatively reduced levels of sequence variation, skew in allele frequency towards more rare, and exhibit increased conservation across the primate and rodent lineages relative to the remainder of genes in the genome. In individual genomes we observed ~12 rare mutations within essential genes predicted to be damaging. Consistent with the hypothesis that mutations in essential genes are risk factors for neurodevelopmental disease, we show that de novo variants in patients with Autism Spectrum Disorder are more likely to occur in this collection of genes. While incomplete, our set of human orthologs shows characteristics fully consistent with essential function in human and thus provides a resource to inform and facilitate interpretation of sequence data in studies of human disease.
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