{"doi":"10.1101/pdb.top065581","title":"Gene Set Analysis and Network Analysis for Genome-Wide Association Studies","abstract":"<jats:title>INTRODUCTION</jats:title><jats:p>The application of high-throughput genotyping in humans has yielded numerous insights into the genetic basis of human phenotypes and an unprecedented amount of genetic data. Genome-wide association studies (GWAS) have increased in number in recent years, but the variants that have been found have generally explained only a tiny proportion of the estimated genetic contribution to phenotypic variation. This article summarizes the progress made in the development of gene set analysis (GSA) and network analysis for GWAS was a way to identify the underlying molecular processes of human phenotypes. It also highlights some promising findings and indicates future directions that may greatly enhance the analysis and interpretation of GWAS.</jats:p>","journal":"Cold Spring Harbor Protocols","year":2011,"id":13888,"datarank":2.1310712309040896,"base_score":3.1780538303479458,"endowment":3.1780538303479458,"self_citation_contribution":0.47670807455219194,"citation_network_contribution":1.6543631563518977,"self_endowment_contribution":0.47670807455219194,"citer_contribution":1.6543631563518977,"corpus_percentile":null,"corpus_rank":null,"citation_count":23,"citer_count":22,"citers_with_citation_signal":21,"citers_with_endowment":21,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":215,"name":"Gerome Breen","orcid":"0000-0003-2053-1792","position":1,"is_corresponding":false},{"id":112136,"name":"Inti Pedroso","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":3.1780538303479458,"endowment":3.1780538303479458,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"21880815","pmcid":null,"openalex_id":"https://openalex.org/W2039666944","authors":[],"funders":[{"funder_name":"Medical Research Council","grant_id":"G9817803B","title":null}],"total_grants":1,"fwci":null,"citation_percentile":null,"influential_citations":0,"citation_trend":[{"year":2012,"count":4},{"year":2013,"count":3},{"year":2014,"count":7},{"year":2015,"count":1},{"year":2016,"count":1},{"year":2017,"count":2},{"year":2018,"count":2},{"year":2022,"count":2}],"oa_status":"closed","license":null,"oa_locations":[{"url":"https://syndication.highwire.org/content/doi/10.1101/pdb.top065581","host_type":"publisher"},{"url":"https://doi.org/10.1101/pdb.top065581","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/21880815","host_type":"repository"}],"fields_of_study":["Genetic Associations and Epidemiology","Bioinformatics and Genomic Networks","Genomics and Rare Diseases","Biology","Medicine","Computer Science","Gene Regulatory Networks","Genome, Human","Genome-Wide Association Study","High-Throughput Screening Assays","Humans","Phenotype"],"mesh_terms":["Humans","Phenotype","Genome, Human","Gene Regulatory Networks","Genome-Wide Association Study","High-Throughput Screening Assays"],"keywords":["Genome-wide association study","Genetic association","Genotyping","Computational biology","Phenotype","Biology","Genome","Genetics","Gene","Single-nucleotide polymorphism","Genotype"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-05-31T20:00:20.623475Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}