ArticleNature communications2016
Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects.
Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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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
23 citing papers in PubMed.
- Case report: Mutation evolution in a patient with TdT positive high grade B cell lymphoma with MYC and BCL2 rearrangements following the treatment of concurrent follicular lymphoma and diffuse large B-cell lymphoma.Discover oncology · 2024Article
- Specific Mutation Predict Relapse/Refractory Diffuse Large B-Cell Lymphoma.Journal of blood medicine · 2024Article
- Scaled Process Priors for Bayesian Nonparametric Estimation of the Unseen Genetic Variation.Journal of the American Statistical Association · 2024Article
- Estimating clinical risk in gene regions from population sequencing cohort data.American journal of human genetics · 2023Article
- Estimating clinical risk in gene regions from population sequencing cohort data.medRxiv : the preprint server for health sciences · 2023Article
- Neurodevelopmental disorder-associated mutations in TAOK1 reveal its function as a plasma membrane remodeling kinase.Science signaling · 2023Article
- Angioimmunoblastic T-cell lymphoma with extensive follicular dendritic cell and fibroblastic reticular cell network proliferation mimicking follicular dendritic cell sarcoma: A case report with pathologic, immunophenotypic, and molecular findings.Frontiers in oncology · 2022Article
- Whole-Genome/Exome Sequencing Uncovers Mutations and Copy Number Variations in Primary Diffuse Large B-Cell Lymphoma of the Central Nervous System.Frontiers in genetics · 2022Article
- Promoter CpG Density Predicts Downstream Gene Loss-of-Function Intolerance.American journal of human genetics · 2020Article
- Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Article
- Coexpression patterns define epigenetic regulators associated with neurological dysfunction.Genome research · 2019Article
- Putting the data before the algorithm in big data addressing personalized healthcare.NPJ digital medicine · 2019Review
- A map of constrained coding regions in the human genome.Nature genetics · 2019Article
- DNA Motif Recognition Modeling from Protein Sequences.iScience · 2018Article
- High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.Human genetics · 2018Article
- CLCN2 chloride channel mutations in familial hyperaldosteronism type II.Nature genetics · 2018Article
- Quantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data.Cell systems · 2018Article
- Variation in Akt protein kinases in human populations.American journal of physiology. Regulatory, integrative and comparative physiology · 2017Article
- Big knowledge from big data in functional genomics.Emerging topics in life sciences · 2017Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
As new proposals aim to sequence ever larger collection of humans, it is critical to have a quantitative framework to evaluate the statistical power of these projects. We developed a new algorithm, UnseenEst, and applied it to the exomes of 60,706 individuals to estimate the frequency distribution of all protein-coding variants, including rare variants that have not been observed yet in the current cohorts. Our results quantified the number of new variants that we expect to identify as sequencing cohorts reach hundreds of thousands of individuals. With 500K individuals, we find that we expect to capture 7.5% of all possible loss-of-function variants and 12% of all possible missense variants. We also estimate that 2,900 genes have loss-of-function frequency of <0.00001 in healthy humans, consistent with very strong intolerance to gene inactivation.
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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.