ArticleNature genetics2016
A spectral approach integrating functional genomic annotations for coding and noncoding variants.
Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 383 papers, 7 of them syntheses that pooled it.
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Who cites it
383 citing papers in PubMed, 7 syntheses or guidelines pooled it.
- CARMA is a new Bayesian model for fine-mapping in genome-wide association meta-analyses.Nature genetics · 2023Pooled it
- Dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis: a genome-wide study.European heart journal · 2023Pooled it
- Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry.Genome medicine · 2023Pooled it
- Pooled it
- GhostKnockoff inference empowers identification of putative causal variants in genome-wide association studies.Nature communications · 2022Pooled it
- Gene-based whole genome sequencing meta-analysis of 250 circulating proteins in three isolated European populations.Molecular metabolism · 2022Pooled it
- Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss.American journal of human genetics · 2022Pooled it
- HiFIseek: Gene-specific enrichment of high-impact mutations in associated genomic regions.PLoS computational biology · 2026Article
- Advances in genomics-driven genetic decoding and genomic design breeding in tomato.Horticulture research · 2026Article
- AWTI-Net Enables Accurate and Interpretable Functional Assessment of Disease-Associated LncRNA Mutations.Interdisciplinary sciences, computational life sciences · 2026Article
- Structure-Based Network Analysis of AlphaFold Structure Predictions Identifies Putative Causative Variants of Inherited Retinal Disease.Investigative ophthalmology & visual science · 2026Article
- Homozygous NonsenseJournal of clinical medicine · 2026Article
- DeNovoSeer:a deep learning framework for pathogenicity prediction of De novo mutations.Briefings in bioinformatics · 2026Article
- An empirical Bayes framework for burden and dispersion association tests helps prioritize rare variants associated with Alzheimer's disease.medRxiv : the preprint server for health sciences · 2026Article
- Defining the molecular tolerance-to-damage landscape of SMARCA4 helicase genetic alterations.bioRxiv : the preprint server for biology · 2026Article
- Domain-Specific Computational, Functional and Structural Methods Enable Interpretation ofCurrent oncology (Toronto, Ont.) · 2026Article
- NCBoost v2: a classifier for non-coding single-nucleotide variants in Mendelian diseases.Bioinformatics (Oxford, England) · 2026Article
- CDsyn: A comprehensive database for deleterious human synonymous variation prediction.iScience · 2026Article
- Functional Variant Discovery Identifies a Novel Genetic Link between SPRY2, Wood Smoke, and Asthma.American journal of respiratory cell and molecular biology · 2026Article
- EMMVEP: An Ensemble Method for Protein Missense Variant Effect Prediction Based on Multi-Source Feature Fusion.Interdisciplinary sciences, computational life sciences · 2026Article
323 more citing papers are in PubMed but not listed here.
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4 authors.
Funding
Abstract
Over the past few years, substantial effort has been put into the functional annotation of variation in human genome sequences. Such annotations can have a critical role in identifying putatively causal variants for a disease or trait among the abundant natural variation that occurs at a locus of interest. The main challenges in using these various annotations include their large numbers and their diversity. Here we develop an unsupervised approach to integrate these different annotations into one measure of functional importance (Eigen) that, unlike most existing methods, is not based on any labeled training data. We show that the resulting meta-score has better discriminatory ability using disease-associated and putatively benign variants from published studies (in both coding and noncoding regions) than the recently proposed CADD score. Across varied scenarios, the Eigen score performs generally better than any single individual annotation, representing a powerful single functional score that can be incorporated in fine-mapping studies.
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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.