{"@context":"http://iiif.io/api/presentation/2/context.json","@id":"https://repo.library.stonybrook.edu/cantaloupe/iiif/2/manifest.json","@type":"sc:Manifest","label":"Distribution of Number of Rare Variants Appearing in Cases but Not Controls in Genome-wide Studies","metadata":[{"label":"dc.description.sponsorship","value":"This work is sponsored by the Stony Brook University Graduate School in compliance with the requirements for completion of degree."},{"label":"dc.format","value":"Monograph"},{"label":"dc.format.medium","value":"Electronic Resource"},{"label":"dc.identifier.uri","value":"http://hdl.handle.net/1951/55675"},{"label":"dc.language.iso","value":"en_US"},{"label":"dc.publisher","value":"The Graduate School, Stony Brook University: Stony Brook, NY."},{"label":"dcterms.abstract","value":"Whole genome sequencing and whole exome sequencing are developing techniques to explore the associations between rare variants and complex diseases. The number of variants that are expected to appear in a randomly selected group that do not appear in a different group randomly selected from the same population has unknown mean and variance. Expressions for these quantities are derived here. Numerical values are calculated assuming that the frequency of a rare variant has a beta distribution using parameters estimated for four populations. Extensions to the number of variants that appear in r ( r >1) members of a randomly selected group with none in the comparison group are given. These calculations suggest that a genome wide study of rare variants would generate an extremely large number of false positives. Similarly, an exome wide search would also generate a smaller but still overwhelming number of false positives. A search restricted to variants in a specified gene would not generate excessive numbers of false positives. The expectations using the beta model fit a SNP database well when the underlying beta distribution was restricted to variant frequencies greater than 0.001."},{"label":"dcterms.available","value":"2012-05-15T18:07:23Z"},{"label":"dcterms.contributor","value":"Haipeng Xing"},{"label":"dcterms.creator","value":"Xu, Wenjie"},{"label":"dcterms.dateAccepted","value":"2015-04-24T14:53:18Z"},{"label":"dcterms.dateSubmitted","value":"2015-04-24T14:53:18Z"},{"label":"dcterms.description","value":"Department of Applied Mathematics and Statistics"},{"label":"dcterms.format","value":"Monograph"},{"label":"dcterms.identifier","value":"Xu_grad.sunysb_0771E_10343.pdf"},{"label":"dcterms.issued","value":"2010-12-01"},{"label":"dcterms.language","value":"en_US"},{"label":"dcterms.provenance","value":"Made available in DSpace on 2012-05-15T18:07:23Z (GMT). No. of bitstreams: 1\nXu_grad.sunysb_0771E_10343.pdf: 662719 bytes, checksum: af83c1d39fe8548eedee384d0e336816 (MD5)\n Previous issue date: 1"},{"label":"dcterms.publisher","value":"The Graduate School, Stony Brook University: Stony Brook, NY."},{"label":"dcterms.subject","value":"beta distribution, case-control study, exome sequencing, false positives, rare variant, whole genome sequencing"},{"label":"dcterms.title","value":"Distribution of Number of Rare Variants Appearing in Cases but Not Controls in Genome-wide Studies"},{"label":"dcterms.type","value":"Dissertation"},{"label":"dc.type","value":"Dissertation"}],"description":"This manifest was generated dynamically","viewingDirection":"left-to-right","sequences":[{"@type":"sc:Sequence","canvases":[{"@id":"https://repo.library.stonybrook.edu/cantaloupe/iiif/2/canvas/page-1.json","@type":"sc:Canvas","label":"Page 1","height":1650,"width":1275,"images":[{"@type":"oa:Annotation","motivation":"sc:painting","resource":{"@id":"https://repo.library.stonybrook.edu/cantaloupe/iiif/2/55%2F11%2F73%2F55117303554243968089541833130130062367/full/full/0/default.jpg","@type":"dctypes:Image","format":"image/jpeg","height":1650,"width":1275,"service":{"@context":"http://iiif.io/api/image/2/context.json","@id":"https://repo.library.stonybrook.edu/cantaloupe/iiif/2/55%2F11%2F73%2F55117303554243968089541833130130062367","profile":"http://iiif.io/api/image/2/level2.json"}},"on":"https://repo.library.stonybrook.edu/cantaloupe/iiif/2/canvas/page-1.json"}]}]}]}