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However, TWAS is only applicable for common variants, excluding rare variants in exome or whole-genome sequences. This is partly because of the inherent limitation of TWAS protocols that rely on predicting gene expressions. Our previous research has revealed the insight into TWAS: the 2 steps in TWAS, building and applying the expression prediction models, are essentially genetic feature selection and aggregations that do not have to involve predictions. Based on this insight disentangling TWAS, rare variants\u2019 inability of predicting expression traits is no longer an obstacle. Herein, we developed \u201crare variant TWAS,\u201d or rvTWAS, that first uses a Bayesian model to conduct expression-directed feature selection and then uses a kernel machine to carry out feature aggregation, forming a model leveraging expressions for association mapping including rare variants. We demonstrated the performance of rvTWAS by thorough simulations and real data analysis in 3 psychiatric disorders, namely schizophrenia, bipolar disorder, and autism spectrum disorder. We confirmed that rvTWAS outperforms existing TWAS protocols and revealed additional genes underlying psychiatric disorders. Particularly, we formed a hypothetical mechanism in which zinc finger genes impact all 3 disorders through transcriptional regulations. rvTWAS will open a door for sequence-based association mappings integrating gene expressions.<\/jats:p>","DOI":"10.1093\/genetics\/iyad204","type":"journal-article","created":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T19:15:29Z","timestamp":1700680529000},"source":"Crossref","is-referenced-by-count":4,"title":["rvTWAS: identifying gene\u2013trait association using sequences by utilizing transcriptome-directed feature selection"],"prefix":"10.1093","volume":"226","author":[{"given":"Jingni","family":"He","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, University of Calgary , Calgary T2N 1N4 , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, University of Calgary , Calgary T2N 1N4 , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qingrun","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, University of Calgary , Calgary T2N 1N4 , Canada"},{"name":"Department of Mathematics and Statistics, University of Calgary , Calgary T2N 1N4 , Canada"},{"name":"Alberta Children\u2019s Hospital Research Institute, University of Calgary , Calgary T2N 1N4 , Canada"},{"name":"Arnie Charbonneau Cancer Institute, University of Calgary , Calgary T2N 1N4 , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,11,24]]},"reference":[{"issue":"1","key":"2024091716340966100_iyad204-B1","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1186\/2040-2392-4-36","article-title":"SFARI gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)","volume":"4","author":"Abrahams","year":"2013","journal-title":"Mol Autism"},{"key":"2024091716340966100_iyad204-B2","doi-asserted-by":"publisher","first-page":"118020","DOI":"10.1016\/j.lfs.2020.118020","article-title":"The role of CREB and BDNF in neurobiology and treatment of Alzheimer\u2019s disease","volume":"257","author":"Amidfar","year":"2020","journal-title":"Life Sci"},{"issue":"1","key":"2024091716340966100_iyad204-B3","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/75556","article-title":"Gene Ontology: tool for the unification of biology. 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