Regional missense constraint improves variant deleteriousness prediction
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Summary
This work leveraged the exome sequencing data of 60,706 individuals from the Exome Aggregation Consortium (ExAC) dataset to identify sub-genic regions that are depleted of missense variation and used this depletion as part of a novel missense deleteriousness metric named MPC.
- Type
- preprint
- Published
- 2017-06-12
- Cited by
- 360
- References
- 30
- Access
- Open access
- OpenAlex
- https://openalex.org/W2625862723
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:90521949
Keywords
Missense mutation, Exome sequencing, Exome, Genetics, Computational biology
References
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- ClinVar: public archive of relationships among sequence variation and human phenotype
- A general framework for estimating the relative pathogenicity of human genetic variants
Cited by
- Landscape of human miRNA variation and conservation using Annotative Database of miRNA Elements, ADmiRE
- Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation
- Human gene essentiality
- A map of constrained coding regions in the human genome
- MVP: predicting pathogenicity of missense variants by deep learning
- ASD and ADHD have a similar burden of rare protein-truncating variants
- Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser
- Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing
- Genetic variant pathogenicity prediction trained using large-scale disease specific clinical sequencing datasets
- Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland
- Common Disease Is More Complex Than Implied by the Core Gene Omnigenic Model.
- S-CAP extends clinical-grade pathogenicity prediction to genetic variants that affect RNA splicing
- De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus
- The Genetic Landscape of Diamond-Blackfan Anemia
- Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
- De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis
- Improved Pathogenic Variant Localization using a Hierarchical Model of Sub-regional Intolerance
- Estimation of allele-specific fitness effects across human protein-coding sequences and implications for disease
- Computational genomics and genetics of developmental disorders
- CDK13-related disorder.
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