Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity
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F. Hormozdiari | A. Price | K. Dey | S. Gazal | L. O'Connor | J. Nasser | O. Weissbrod | J. Engreitz | C. Fulco | B. Pasaniuc | Huwenbo Shi | K. Jagadeesh | D. Weiner | A. Price
[1] Ramkumar Veppathur Mohan,et al. Identifying disease-critical cell types and cellular processes across the human body by integration of single-cell profiles and human genetics , 2021, bioRxiv.
[2] Sina A. Gharib,et al. Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression , 2021, Nature Genetics.
[3] Ryan L. Collins,et al. Genome-wide enhancer maps link risk variants to disease genes , 2021, Nature.
[4] Manolis Kellis,et al. Regulatory genomic circuitry of human disease loci by integrative epigenomics , 2021, Nature.
[5] Ellen M. Schmidt,et al. Open Targets Genetics: An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci , 2020, bioRxiv.
[6] Alexander E. Lopez,et al. Exome sequencing and characterization of 49,960 individuals in the UK Biobank , 2020, Nature.
[7] Jacob C. Ulirsch,et al. Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases , 2020, Nature Genetics.
[8] Y. Gilad,et al. Where Are the Disease-Associated eQTLs? , 2020, Trends in genetics : TIG.
[9] David B. Goldstein,et al. Enhancer Domains Predict Gene Pathogenicity and Inform Gene Discovery in Complex Disease. , 2020, American journal of human genetics.
[10] Mark I. McCarthy,et al. A brief history of human disease genetics , 2020, Nature.
[11] Jane E. Carpenter,et al. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes , 2019, Nature Genetics.
[12] Matti Pirinen,et al. Functionally-informed fine-mapping and polygenic localization of complex trait heritability , 2019, Nature Genetics.
[13] Christopher D. Brown,et al. The GTEx Consortium atlas of genetic regulatory effects across human tissues , 2019, Science.
[14] Ryan L. Collins,et al. The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.
[15] D. Goldstein,et al. Rare-variant collapsing analyses for complex traits: guidelines and applications , 2019, Nature Reviews Genetics.
[16] Alkes L. Price,et al. Quantifying genetic effects on disease mediated by assayed gene expression levels , 2019, Nature Genetics.
[17] Bing Ren,et al. A Compendium of Promoter-Centered Long-Range Chromatin Interactions in the Human Genome , 2019, Nature Genetics.
[18] A. Price,et al. Reconciling S-LDSC and LDAK functional enrichment estimates , 2019, Nature Genetics.
[19] Neva C. Durand,et al. Activity-by-Contact model of enhancer-promoter regulation from thousands of CRISPR perturbations , 2019, Nature Genetics.
[20] Michael J. Gloudemans,et al. Abundant associations with gene expression complicate GWAS follow-up , 2019, Nature Genetics.
[21] Howard Y. Chang,et al. Massively parallel single-cell chromatin landscapes of human immune cell development and intratumoral T cell exhaustion , 2019, Nature Biotechnology.
[22] David A. Knowles,et al. Opportunities and challenges for transcriptome-wide association studies , 2019, Nature Genetics.
[23] Helen E. Parkinson,et al. The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 , 2018, Nucleic Acids Res..
[24] Mark Gerstein,et al. GENCODE reference annotation for the human and mouse genomes , 2018, Nucleic Acids Res..
[25] Yang I Li,et al. Trans Effects on Gene Expression Can Drive Omnigenic Inheritance , 2018, Cell.
[26] Zoltán Kutalik,et al. Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits , 2019, Nature Communications.
[27] Matthew Stephens,et al. A simple new approach to variable selection in regression, with application to genetic fine-mapping , 2018, bioRxiv.
[28] P. Donnelly,et al. The UK Biobank resource with deep phenotyping and genomic data , 2018, Nature.
[29] N. Patterson,et al. Extreme Polygenicity of Complex Traits Is Explained by Negative Selection. , 2019, American journal of human genetics.
[30] Andrew C. Adey,et al. Cicero Predicts cis-Regulatory DNA Interactions from Single-Cell Chromatin Accessibility Data. , 2018, Molecular cell.
[31] M. McCarthy,et al. Using an atlas of gene regulation across 44 human tissues to inform complex disease- 1 and trait-associated variation , 2018 .
[32] P. Visscher,et al. Common Disease Is More Complex Than Implied by the Core Gene Omnigenic Model , 2018, Cell.
[33] D. Schaid,et al. From genome-wide associations to candidate causal variants by statistical fine-mapping , 2018, Nature Reviews Genetics.
[34] David Z. Pan,et al. Phenotype-specific enrichment of Mendelian disorder genes near GWAS regions across 62 complex traits , 2018, bioRxiv.
[35] A. Chen-Plotkin,et al. The Post-GWAS Era: From Association to Function. , 2018, American journal of human genetics.
[36] Yakir A Reshef,et al. Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits , 2018, Nature Genetics.
[37] Christopher D. Brown,et al. A dementia-associated risk variant near TMEM106B alters chromatin architecture and gene expression , 2017, bioRxiv.
[38] Gary D Bader,et al. Association analysis identifies 65 new breast cancer risk loci , 2017, Nature.
[39] Manolis Kellis,et al. Evidence of reduced recombination rate in human regulatory domains , 2017, Genome Biology.
[40] Howard Y. Chang,et al. Discovery of stimulation-responsive immune enhancers with CRISPR activation , 2017, Nature.
[41] Jesse M. Engreitz,et al. A Genetic Variant Associated with Five Vascular Diseases Is a Distal Regulator of Endothelin-1 Gene Expression , 2017, Cell.
[42] P. Visscher,et al. 10 Years of GWAS Discovery: Biology, Function, and Translation. , 2017, American journal of human genetics.
[43] Yang I Li,et al. An Expanded View of Complex Traits: From Polygenic to Omnigenic , 2017, Cell.
[44] Doron Lancet,et al. GeneHancer: genome-wide integration of enhancers and target genes in GeneCards , 2017, Database J. Biol. Databases Curation.
[45] Nikolaos A Patsopoulos,et al. Limited statistical evidence for shared genetic effects of eQTLs and autoimmune disease-associated loci in three major immune cell types , 2017, Nature Genetics.
[46] Evan Z. Macosko,et al. Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types , 2017, Nature Genetics.
[47] B. Neale,et al. Linkage disequilibrium dependent architecture of human complex traits reveals action of negative selection , 2016, bioRxiv.
[48] Jonathan M. Cairns,et al. Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters , 2016, Cell.
[49] Ayellet V. Segrè,et al. Colocalization of GWAS and eQTL Signals Detects Target Genes , 2016, bioRxiv.
[50] Jacob C. Ulirsch,et al. Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits , 2016, Cell.
[51] Yonatan Stelzer,et al. Parkinson-associated risk variant in enhancer element produces subtle effect on target gene expression , 2016, Nature.
[52] Robert W. Mills,et al. Discovery and validation of sub-threshold genome-wide association study loci using epigenomic signatures , 2016, eLife.
[53] Wen J. Li,et al. Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation , 2015, Nucleic Acids Res..
[54] T. Lehtimäki,et al. Integrative approaches for large-scale transcriptome-wide association studies , 2015, Nature Genetics.
[55] Gabor T. Marth,et al. A global reference for human genetic variation , 2015, Nature.
[56] Z. Szallasi,et al. CAUSEL: An epigenome and genome editing pipeline for establishing function of non-coding GWAS variants , 2015, Nature Medicine.
[57] Matti Pirinen,et al. FINEMAP: efficient variable selection using summary data from genome-wide association studies , 2015, bioRxiv.
[58] Yakir A Reshef,et al. Partitioning heritability by functional annotation using genome-wide association summary statistics , 2015, Nature Genetics.
[59] Manolis Kellis,et al. FTO Obesity Variant Circuitry and Adipocyte Browning in Humans. , 2015, The New England journal of medicine.
[60] S. Edwards,et al. Long-Range Modulation of PAG1 Expression by 8q21 Allergy Risk Variants. , 2015, American journal of human genetics.
[61] Kaanan P. Shah,et al. A gene-based association method for mapping traits using reference transcriptome data , 2015, Nature Genetics.
[62] Joris M. Mooij,et al. MAGMA: Generalized Gene-Set Analysis of GWAS Data , 2015, PLoS Comput. Biol..
[63] Michael Q. Zhang,et al. Integrative analysis of 111 reference human epigenomes , 2015, Nature.
[64] Jaana M. Hartikainen,et al. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. , 2015, American journal of human genetics.
[65] Donghyung Lee,et al. JEPEG: a summary statistics based tool for gene-level joint testing of functional variants , 2014, Bioinform..
[66] M. Daly,et al. Genetic and Epigenetic Fine-Mapping of Causal Autoimmune Disease Variants , 2014, Nature.
[67] Kyle J. Gaulton,et al. Identification of a Regulatory Variant That Binds FOXA1 and FOXA2 at the CDC123/CAMK1D Type 2 Diabetes GWAS Locus , 2014, PLoS genetics.
[68] Nancy F. Hansen,et al. An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval. , 2014, American journal of human genetics.
[69] P. Gaffney,et al. Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription. , 2014, American journal of human genetics.
[70] W. V. van IJcken,et al. HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers. , 2014, The Journal of clinical investigation.
[71] J. Seidman,et al. A common genetic variant within SCN10A modulates cardiac SCN5A expression. , 2014, The Journal of clinical investigation.
[72] Kai Zhang,et al. A prostate cancer susceptibility allele at 6q22 increases RFX6 expression by modulating HOXB13 chromatin binding , 2014, Nature Genetics.
[73] C. Wallace,et al. Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics , 2013, PLoS genetics.
[74] Matthew C. Canver,et al. An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level , 2013, Science.
[75] Buhm Han,et al. Chromatin marks identify critical cell types for fine mapping complex trait variants , 2012 .
[76] Shane J. Neph,et al. Systematic Localization of Common Disease-Associated Variation in Regulatory DNA , 2012, Science.
[77] Albert J. Vilella,et al. A high-resolution map of human evolutionary constraint using 29 mammals , 2011, Nature.
[78] Timothy J. Durham,et al. "Systematic" , 1966, Comput. J..
[79] Olle Melander,et al. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus , 2010, Nature.
[80] F. Collins,et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits , 2009, Proceedings of the National Academy of Sciences.
[81] D. Haussler,et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. , 2005, Genome research.