{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T07:09:51Z","timestamp":1769843391656,"version":"3.49.0"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"13","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Summary: Here we present INRICH (INterval enRICHment analysis), a pathway-based genome-wide association analysis tool that tests for enriched association signals of predefined gene-sets across independent genomic intervals. INRICH has wide applicability, fast running time and, most importantly, robustness to potential genomic biases and confounding factors. Such factors, including varying gene size and single-nucleotide polymorphism density, linkage disequilibrium within and between genes and overlapping genes with similar annotations, are often not accounted for by existing gene-set enrichment methods. By using a genomic permutation procedure, we generate experiment-wide empirical significance values, corrected for the total number of sets tested, implicitly taking overlap of sets into account. By simulation we confirm a properly controlled type I error rate and reasonable power of INRICH under diverse parameter settings. As a proof of principle, we describe the application of INRICH on the NHGRI GWAS catalog.<\/jats:p>\n               <jats:p>Availability: A standalone C++ program, user manual and datasets can be freely downloaded from: http:\/\/atgu.mgh.harvard.edu\/inrich\/.<\/jats:p>\n               <jats:p>Contact: \u00a0shaun@atgu.mgh.harvard.edu<\/jats:p>\n               <jats:p>Supplementary information: \u00a0Supplementary data are available at Bioinformatics online.<\/jats:p>","DOI":"10.1093\/bioinformatics\/bts191","type":"journal-article","created":{"date-parts":[[2012,4,19]],"date-time":"2012-04-19T00:25:22Z","timestamp":1334795122000},"page":"1797-1799","source":"Crossref","is-referenced-by-count":204,"title":["INRICH: interval-based enrichment analysis for genome-wide association studies"],"prefix":"10.1093","volume":"28","author":[{"given":"Phil H.","family":"Lee","sequence":"first","affiliation":[{"name":"1 Analytic and Translational Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, MA 02114, 2Department of Psychiatry, Harvard Medical School, Boston, MA 02115, 3Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142 and 4Center for Statistical Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA"},{"name":"1 Analytic and Translational Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, MA 02114, 2Department of Psychiatry, Harvard Medical School, Boston, MA 02115, 3Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142 and 4Center for Statistical Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA"},{"name":"1 Analytic and Translational Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, MA 02114, 2Department of Psychiatry, Harvard Medical School, Boston, MA 02115, 3Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142 and 4Center for Statistical Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA"}]},{"given":"Colm","family":"O'Dushlaine","sequence":"additional","affiliation":[{"name":"1 Analytic and Translational Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, MA 02114, 2Department of Psychiatry, Harvard Medical School, Boston, MA 02115, 3Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142 and 4Center for Statistical Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA"}]},{"given":"Brett","family":"Thomas","sequence":"additional","affiliation":[{"name":"1 Analytic and Translational Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, MA 02114, 2Department of Psychiatry, Harvard Medical School, Boston, MA 02115, 3Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142 and 4Center for Statistical Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA"}]},{"given":"Shaun M.","family":"Purcell","sequence":"additional","affiliation":[{"name":"1 Analytic and Translational Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, MA 02114, 2Department of Psychiatry, Harvard Medical School, Boston, MA 02115, 3Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142 and 4Center for Statistical Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA"},{"name":"1 Analytic and Translational Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, MA 02114, 2Department of Psychiatry, Harvard Medical School, Boston, MA 02115, 3Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142 and 4Center for Statistical Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA"},{"name":"1 Analytic and Translational Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, MA 02114, 2Department of Psychiatry, Harvard Medical School, Boston, MA 02115, 3Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142 and 4Center for Statistical Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA"},{"name":"1 Analytic and Translational Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, MA 02114, 2Department of Psychiatry, Harvard Medical School, Boston, MA 02115, 3Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142 and 4Center for Statistical Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA"}]}],"member":"286","published-online":{"date-parts":[[2012,4,17]]},"reference":[{"key":"2023012512411391900_B1","doi-asserted-by":"crossref","first-page":"9362","DOI":"10.1073\/pnas.0903103106","article-title":"Potential etiologic and functional implications of genome-wide association loci for human 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