{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T09:49:07Z","timestamp":1696499347552},"reference-count":5,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Bioinformatics"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Genome-wide association studies have been successful in finding common variants influencing common traits. However, these associations only account for a fraction of trait heritability. There has been a shift in the field towards studying low frequency and rare variants, which are now widely recognised as putative complex trait determinants. Despite this increasing focus on examining the role of low frequency and rare variants in complex disease susceptibility, there is a lack of user-friendly analytical packages implementing powerful association tests for the analysis of rare variants.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>We have developed two software tools, CCRaVAT (Case-Control Rare Variant Analysis Tool) and QuTie (Quantitative Trait), which enable efficient large-scale analysis of low frequency and rare variants. Both programs implement a collapsing method examining the accumulation of low frequency and rare variants across a locus of interest that has more power than single variant analysis. CCRaVAT carries out case-control analyses whereas QuTie has been developed for continuous trait analysis.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>CCRaVAT and QuTie are easy to use software tools that allow users to perform genome-wide association analysis on low frequency and rare variants for both binary and quantitative traits. The software is freely available and provides the genetics community with a resource to perform association analysis on rarer genetic variants.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2105-11-527","type":"journal-article","created":{"date-parts":[[2010,10,21]],"date-time":"2010-10-21T18:15:26Z","timestamp":1287684926000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["CCRaVAT and QuTie - enabling analysis of rare variants in large-scale case control and quantitative trait association studies"],"prefix":"10.1186","volume":"11","author":[{"given":"Robert","family":"Lawrence","sequence":"first","affiliation":[]},{"given":"Aaron G","family":"Day-Williams","sequence":"additional","affiliation":[]},{"given":"Katherine S","family":"Elliott","sequence":"additional","affiliation":[]},{"given":"Andrew P","family":"Morris","sequence":"additional","affiliation":[]},{"given":"Eleftheria","family":"Zeggini","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2010,10,21]]},"reference":[{"issue":"6","key":"4110_CR1","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1038\/ng.f.136","volume":"40","author":"W Bodmer","year":"2008","unstructured":"Bodmer W, Bonilla C: Common and rare variants in multifactorial susceptibility to common diseases. Nature genetics 2008, 40(6):695\u2013701. 10.1038\/ng.f.136","journal-title":"Nature genetics"},{"issue":"7265","key":"4110_CR2","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1038\/nature08494","volume":"461","author":"TA Manolio","year":"2009","unstructured":"Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, et al.: Finding the missing heritability of complex diseases. Nature 2009, 461(7265):747\u2013753. 10.1038\/nature08494","journal-title":"Nature"},{"key":"4110_CR3","volume-title":"Genetic epidemiology","author":"AP Morris","year":"2009","unstructured":"Morris AP, Zeggini E: An evaluation of statistical approaches to rare variant analysis in genetic association studies. Genetic epidemiology 2009."},{"issue":"3","key":"4110_CR4","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1016\/j.ajhg.2008.06.024","volume":"83","author":"B Li","year":"2008","unstructured":"Li B, Leal SM: Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. American journal of human genetics 2008, 83(3):311\u2013321. 10.1016\/j.ajhg.2008.06.024","journal-title":"American journal of human genetics"},{"issue":"3","key":"4110_CR5","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1086\/519795","volume":"81","author":"S Purcell","year":"2007","unstructured":"Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, et al.: PLINK: a tool set for whole-genome association and population-based linkage analyses. American journal of human genetics 2007, 81(3):559\u2013575. 10.1086\/519795","journal-title":"American journal of human genetics"}],"container-title":["BMC Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2105-11-527.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T03:44:56Z","timestamp":1630467896000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcbioinformatics.biomedcentral.com\/articles\/10.1186\/1471-2105-11-527"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10,21]]},"references-count":5,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["4110"],"URL":"https:\/\/doi.org\/10.1186\/1471-2105-11-527","relation":{},"ISSN":["1471-2105"],"issn-type":[{"value":"1471-2105","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,10,21]]},"assertion":[{"value":"3 June 2010","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 October 2010","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 October 2010","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"527"}}