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Biol."],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Polygenic risk score (PRS) derived from summary statistics of genome\u2010wide association studies (GWAS) is a useful tool to infer an individual\u2019s genetic risk for health outcomes and has gained increasing popularity in human genetics research. PRS in its simplest form enjoys both computational efficiency and easy accessibility, yet the predictive performance of PRS remains moderate for diseases and traits.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We provide an overview of recent advances in statistical methods to improve PRS\u2019s performance by incorporating information from linkage disequilibrium, functional annotation, and pleiotropy. We also introduce model validation methods that fine\u2010tune PRS using GWAS summary statistics.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In this review, we showcase methodological advances and current limitations of PRS, and discuss several emerging issues in risk prediction research.<\/jats:p><\/jats:sec>","DOI":"10.15302\/j-qb-021-0238","type":"journal-article","created":{"date-parts":[[2021,4,7]],"date-time":"2021-04-07T07:11:46Z","timestamp":1617779506000},"page":"133-140","source":"Crossref","is-referenced-by-count":5,"title":["Polygenic risk scores: effect estimation and model optimization"],"prefix":"10.1002","volume":"9","author":[{"given":"Zijie","family":"Zhao","sequence":"first","affiliation":[{"name":"<!--1--> Department of Biostatistics and Medical Informatics University of Wisconsin\u2010Madison Madison WI 53726 USA"}]},{"given":"Jie","family":"Song","sequence":"additional","affiliation":[{"name":"<!--2--> Department of Statistics University of Wisconsin\u2010Madison Madison WI 53726 USA"}]},{"given":"Tuo","family":"Wang","sequence":"additional","affiliation":[{"name":"<!--1--> Department of Biostatistics and Medical Informatics University of Wisconsin\u2010Madison Madison WI 53726 USA"}]},{"given":"Qiongshi","family":"Lu","sequence":"additional","affiliation":[{"name":"<!--1--> Department of Biostatistics and Medical Informatics University of Wisconsin\u2010Madison Madison WI 53726 USA"},{"name":"<!--2--> Department of Statistics University of Wisconsin\u2010Madison Madison WI 53726 USA"},{"name":"<!--3--> Center for Demography of Health and Aging University of Wisconsin\u2010Madison Madison WI 53726 USA"}]}],"member":"311","published-online":{"date-parts":[[2021,6]]},"reference":[{"key":"e_1_2_11_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature08185"},{"key":"e_1_2_11_3_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.6665407"},{"key":"e_1_2_11_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.02.027"},{"key":"e_1_2_11_5_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003264"},{"key":"e_1_2_11_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.12.006"},{"key":"e_1_2_11_7_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.169375.113"},{"key":"e_1_2_11_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588\u2010018\u20100147\u20103"},{"key":"e_1_2_11_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy271"},{"key":"e_1_2_11_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588\u2010019\u20100403\u20101"},{"key":"e_1_2_11_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3457"},{"key":"e_1_2_11_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg.2016.27"},{"key":"e_1_2_11_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/gigascience\/giz082"},{"key":"e_1_2_11_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.09.001"},{"key":"e_1_2_11_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010019\u201009718\u20105"},{"key":"e_1_2_11_16_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1005589"},{"key":"e_1_2_11_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.22050"},{"key":"e_1_2_11_18_2","doi-asserted-by":"publisher","DOI":"10.1080\/01621459.2020.1826325"},{"key":"e_1_2_11_19_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006836"},{"key":"e_1_2_11_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-017-02769-6"},{"key":"e_1_2_11_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-08535-0"},{"key":"e_1_2_11_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588\u2010017\u20100009\u20104"},{"key":"e_1_2_11_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41562-019-0566-x"},{"key":"e_1_2_11_24_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btz176"},{"key":"e_1_2_11_25_2","doi-asserted-by":"crossref","unstructured":"Zhao Z. 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