Abdellaoui A, Yengo L, Verweij KJ, Visscher PM. 15 years of GWAS discovery: realizing the promise. Am J Hum Genet. 2023;110:179.
Article CAS PubMed PubMed Central Google Scholar
Sollis E, Mosaku A, Abid A, Buniello A, Cerezo M, Gil L, Groza T, Güneş O, Hall P, Hayhurst J. The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource. Nucleic Acids Res. 2023;51:D977–85.
Article CAS PubMed Google Scholar
Wray NR, Lin T, Austin J, McGrath JJ, Hickie IB, Murray GK, Visscher PM. From basic science to clinical application of polygenic risk scores: a primer. JAMA Psychiat. 2021;78:101–9.
Ma Y, Zhou X. Genetic prediction of complex traits with polygenic scores: a statistical review. Trends Genet. 2021;37:995–1011.
Article CAS PubMed PubMed Central Google Scholar
Wang Y, Tsuo K, Kanai M, Neale BM, Martin AR. Challenges and opportunities for developing more generalizable polygenic risk scores. Annu Rev Biomed Data Sci. 2022;5:293–320.
Article PubMed PubMed Central Google Scholar
Lambert SA, Abraham G, Inouye M. Towards clinical utility of polygenic risk scores. Hum Mol Genet. 2019;28:R133–42.
Article CAS PubMed Google Scholar
Lewis CM, Vassos E. Polygenic risk scores: from research tools to clinical instruments. Genome Med. 2020;12:1–11.
Kullo IJ, Lewis CM, Inouye M, Martin AR, Ripatti S, Chatterjee N. Polygenic scores in biomedical research. Nat Rev Genet. 2022;23:524–32.
Article CAS PubMed PubMed Central Google Scholar
Adeyemo A, Balaconis MK, Darnes DR, Fatumo S, Granados Moreno P, Hodonsky CJ, Inouye M, Kanai M, Kato K, Knoppers BM, et al. Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps. Nat Med. 2021;27:1876–84.
Fuat A, Adlen E, Monane M, Coll R, Groves S, Little E, Wild J, Kamali FJ, Soni Y, Haining S. A polygenic risk score added to a QRISK2 cardiovascular risk calculator demonstrated robust clinical acceptance in the primary care setting. Circulation. 2022;146:A10947–A10947.
Carver T, Hartley S, Lee A, Cunningham AP, Archer S, de Babb Villiers C, Roberts J, Ruston R, Walter FM, Tischkowitz M. CanRisk Tool—A web interface for the prediction of breast and ovarian cancer risk and the likelihood of carrying genetic pathogenic variants. Cancer Epidemiol Biomarkers Prev. 2021;30:469–73.
Article CAS PubMed Google Scholar
Knoppers BM, Bernier A, Granados Moreno P, Pashayan N. Of screening, stratification, and scores. J Pers Med. 2021;11:736.
Article PubMed PubMed Central Google Scholar
Esserman LJ. The WISDOM Study: breaking the deadlock in the breast cancer screening debate. NPJ breast cancer. 2017;3:34.
Article PubMed PubMed Central Google Scholar
Roux A, Cholerton R, Sicsic J, Moumjid N, French DP, Giorgi Rossi P, Balleyguier C, Guindy M, Gilbert FJ, Burrion J-B. Study protocol comparing the ethical, psychological and socio-economic impact of personalised breast cancer screening to that of standard screening in the “My Personal Breast Screening”(MyPeBS) randomised clinical trial. BMC Cancer. 2022;22:1–13.
Sims EK, Besser RE, Dayan C, Geno Rasmussen C, Greenbaum C, Griffin KJ, Hagopian W, Knip M, Long AE, Martin F. Screening for type 1 diabetes in the general population: a status report and perspective. Diabetes. 2022;71:610–23.
Article CAS PubMed PubMed Central Google Scholar
Hao L, Kraft P, Berriz GF, Hynes ED, Koch C, Kumar KV, Parpattedar SS, Steeves M, Yu W, Antwi AA. Development of a clinical polygenic risk score assay and reporting workflow. Nat Med. 2022;28:1006–13.
Article CAS PubMed PubMed Central Google Scholar
Linder JE, Allworth A, Bland ST, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED. Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genet Med. 2023;25:100006.
Article CAS PubMed Google Scholar
Investigators A. The “All of Us” research program. New Engl J Med. 2019;381:668–76.
Our Future Health Protocol version 4.0 [https://ourfuturehealth.org.uk/our-research-mission/].
Smith D, Bashton M. An integrated national scale SARS-CoV-2 genomic surveillance network. The Lancet Microbe. 2020;3:E99–100.
Lakeman IM, Rodríguez-Girondo MD, Lee A, Celosse N, Braspenning ME, van Engelen K, van de Beek I, van der Hout AH, García EBG, Mensenkamp AR. Clinical applicability of the polygenic risk score for breast cancer risk prediction in familial cases. J Med Genet. 2023;60:327–36.
Trotman J, Armstrong R, Firth H, Trayers C, Watkins J, Allinson K, Jacques TS, Nicholson JC, Burke GA. The NHS England 100,000 genomes project: feasibility and utility of centralised genome sequencing for children with cancer. Br J Cancer. 2022;127:137–44.
Article CAS PubMed PubMed Central Google Scholar
Dineen M, Sidaway-Lee K, Pereira Gray D, Evans PH. Family history recording in UK general practice: the lIFeLONG study. Fam Pract. 2022;39:610–5.
Lu T, Forgetta V, Wu H, Perry JR, Ong KK, Greenwood CM, Timpson NJ, Manousaki D, Richards JB. A polygenic risk score to predict future adult short stature among children. J Clin Endocrinol Metab. 2021;106:1918–28.
Article PubMed PubMed Central Google Scholar
Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU, Jiang Y, Raghavan S. A saturated map of common genetic variants associated with human height. Nature. 2022;1–16:704.
Mars N, Lindbohm JV, della P BriottaParolo, Widén E, Kaprio J, Palotie A, Ripatti S. Systematic comparison of family history and polygenic risk across 24 common diseases. Am J Hum Genet. 2022;109:2152.
Article CAS PubMed PubMed Central Google Scholar
Yang J, Visscher PM, Wray NR. Sporadic cases are the norm for complex disease. Eur J Hum Genet. 2010;18:1039–43.
Ferrat LA, Vehik K, Sharp SA, Lernmark Å, Rewers MJ, She J-X, Ziegler A-G, Toppari J, Akolkar B, Krischer JP. A combined risk score enhances prediction of type 1 diabetes among susceptible children. Nat Med. 2020;26:1247–55.
Article CAS PubMed PubMed Central Google Scholar
Barnes DR, Rookus MA, McGuffog L, Leslie G, Mooij TM, Dennis J, Mavaddat N, Adlard J, Ahmed M, Aittomäki K. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genet Med. 2020;22:1653–66.
Article CAS PubMed PubMed Central Google Scholar
Fahed AC, Wang M, Homburger JR, Patel AP, Bick AG, Neben CL, Lai C, Brockman D, Philippakis A, Ellinor PT. Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat Commun. 2020;11:3635.
Article ADS CAS PubMed PubMed Central Google Scholar
Murray CJ, Aravkin AY, Zheng P, Abbafati C, Abbas KM, Abbasi-Kangevari M, Abd-Allah F, Abdelalim A, Abdollahi M, Abdollahpour I. Global burden of 87 risk factors in 204 countries and territories, 1990–2019: a systematic analysis for the global burden of disease study 2019. The lancet. 2020;396:1223–49.
Sun L, Pennells L, Kaptoge S, Nelson CP, Ritchie SC, Abraham G, Arnold M, Bell S, Bolton T, Burgess S. Polygenic risk scores in cardiovascular risk prediction: a cohort study and modelling analyses. Plos Med. 2021;18:e1003498.
Article CAS PubMed PubMed Central Google Scholar
Weale ME, Riveros-Mckay F, Selzam S, Seth P, Moore R, Tarran WA, Gradovich E, Giner-Delgado C, Palmer D, Wells D. Validation of an integrated risk tool, including polygenic risk score, for atherosclerotic cardiovascular disease in multiple ethnicities and ancestries. Am J Cardiol. 2021;148:157–64.
Neumann JT, Riaz M, Bakshi A, Polekhina G, Thao LT, Nelson MR, Woods RL, Abraham G, Inouye M, Reid CM. Prognostic Value of a polygenic risk score for coronary heart disease in individuals aged 70 years and older. Circ Genom Precis Med. 2022;15:e003429.
Article CAS PubMed Google Scholar
Vassy JL, Posner DC, Ho Y-L, Gagnon DR, Galloway A, Tanukonda V, Houghton SC, Madduri RK, McMahon BH, Tsao PS: Cardiovascular disease risk assessment using traditional risk factors and polygenic risk scores in the million veteran program. JAMA Cardiology 2023; 8:564-574.
He Y, Lakhani CM, Rasooly D, Manrai AK, Tzoulaki I, Patel CJ. Comparisons of polyexposure, polygenic, and clinical risk scores in risk prediction of type 2 diabetes. Diabetes Care. 2021;44:935–43.
Article PubMed PubMed Central Google Scholar
Hodgson S, Huang QQ, Sallah N, Genes, Team HR, Griffiths CJ, Newman WG, Trembath RC, Wright J, Lumbers RT, Kuchenbaecker K. Integrating polygenic risk scores in the prediction of type 2 diabetes risk and subtypes in British Pakistanis and Bangladeshis: a population-based cohort study. Plos Med. 2022;19:e1003981.
留言 (0)