Torkamani A, Wineinger NE, Topol EJ, « The personal and clinical utility of polygenic risk scores », Nature Reviews. Genetics, vol. 19, no 9, , p. 581–590 (PMID29789686, DOI10.1038/s41576-018-0018-x, S2CID46893131)
Lambert SA, Abraham G, Inouye M, « Towards clinical utility of polygenic risk scores », Human Molecular Genetics, vol. 28, no R2, , R133–R142 (PMID31363735, DOI10.1093/hmg/ddz187)
de Vlaming R, Groenen PJ, « The Current and Future Use of Ridge Regression for Prediction in Quantitative Genetics », BioMed Research International, vol. 2015, , p. 143712 (PMID26273586, PMCID4529984, DOI10.1155/2015/143712)
Lello L, Raben TG, Yong SY, Tellier LC, Hsu SD, « Prédiction génomique de 16 risques de maladies complexes comprenant l'infarctus du myocarde, le diabète, le cancer du sein et de la prostate », Scientific Reports, vol. 9, no 1, , p. 15286 (PMID31653892, PMCID6814833, DOI10.1038/s41598-019-51258-x, Bibcode2019NatSR...915286L)
Visscher PM, Wray NR, Zhang Q, Sklar P, McCarthy MI, Brown MA, Yang J, « 10 ans de découverte GWAS : Biologie, fonction et traduction », American Journal of Human Genetics, vol. 101, no 1, , p. 5–22 (PMID28686856, PMCID5501872, DOI10.1016/j.ajhg.2017.06.005)
Spiliopoulou A, Nagy R, Bermingham ML, Huffman JE, Hayward C, Vitart V, Rudan I, Campbell H, Wright AF, Wilson JF, Pong-Wong R, Agakov F, Navarro P, Haley CS, « Prédiction génomique des traits humains complexes : parenté, architecture des traits et méta-modèles prédictifs », Human Molecular Genetics, vol. 24, no 14, , p. 4167–4182 (PMID25918167, PMCID4476450, DOI10.1093/hmg/ddv145)
Zeevi DA, Backenroth D, Hakam-Spector E, Renbaum P, Mann T, Zahdeh F, Segel R, Zeligson S, Eldar-Geva T, Ben-Ami I, Ben-Yehuda A, Carmi S, Altarescu G, « Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing », Genetics in Medicine, vol. 23, no 7, , p. 1334–1340 (PMID33772222, DOI10.1038/s41436-021-01145-6, S2CID232377300)
Treff NR, Zimmerman R, Bechor E, Hsu J, Rana B, Jensen J, Li J, Samoilenko A, Mowrey W, Van Alstine J, Leondires M, Miller K, Paganetti E, Lello L, Avery S, Hsu S, Melchior Tellier LC, « Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform », European Journal of Medical Genetics, vol. 62, no 8, , p. 103647 (PMID31026593, DOI10.1016/j.ejmg.2019.04.004)
Lázaro-Muñoz G, Pereira S, Carmi S, Lencz T, « Screening embryos for polygenic conditions and traits: ethical considerations for an emerging technology », Genetics in Medicine, vol. 23, no 3, , p. 432–434 (PMID33106616, PMCID7936952, DOI10.1038/s41436-020-01019-3)
Kemper JM, Gyngell C, Savulescu J, « Subsidizing PGD: The Moral Case for Funding Genetic Selection », Journal of Bioethical Inquiry, vol. 16, no 3, , p. 405–414 (PMID31418161, PMCID6831526, DOI10.1007/s11673-019-09932-2)
Richardson TG, Harrison S, Hemani G, Davey Smith G, « An atlas of polygenic risk score associations to highlight putative causal relationships across the human phenome », eLife, vol. 8, , e43657 (PMID30835202, PMCID6400585, DOI10.7554/eLife.43657)
(en) Amit V. Khera, Mark Chaffin, Krishna G. Aragam, C.A. Emdin, D. Klarin, Mary E. Haas, Carolina Roselli, P. Natarajan et Sekar Kathiresan, « Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations », Nature Genetics, , p. 219–1224 (DOI10.1038/s41588-018-0183-z).
Mavaddat N, Michailidou K, Dennis J, Lush M, Fachal L, Lee A, etal, « Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes », American Journal of Human Genetics, vol. 104, no 1, , p. 21–34 (PMID30554720, PMCID6323553, DOI10.1016/j.ajhg.2018.11.002)
Ripke S, Walters JT, O'Donovan MC, « Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia », medRxiv, vol. preprint, (DOI10.1101/2020.09.12.20192922, S2CID221635239)
Adebowale Adeyemo, Mary K. Balaconis, Deanna R. Darnes, Segun Fatumo, Palmira Granados Moreno, Chani J. Hodonsky, Michael Inouye, Masahiro Kanai, Kazuto Kato, Bartha M. Knoppers, Anna C. F. Lewis, Alicia R. Martin, Mark I. McCarthy, Michelle N. Meyer, Yukinori Okada, J. Brent Richards, Lucas Richter, Samuli Ripatti, Charles N. Rotimi, Saskia C. Sanderson, Amy C. Sturm, Ricardo A. Verdugo, Elisabeth Widen, Cristen J. Willer, Genevieve L. Wojcik et Alicia Zhou, « Utilisation responsable des scores de risque polygéniques en clinique : avantages potentiels, risques et lacunes », Nature Medicine, vol. 27, no 11, , p. 1876–1884 (PMID34782789, DOI10.1038/s41591-021-01549-6, S2CID244131258)
Ganna A, Magnusson PK, Pedersen NL, de Faire U, Reilly M, Arnlöv J, Sundström J, Hamsten A, Ingelsson E, « Scores de risque génétique multilocus pour la prédiction de la maladie coronarienne », Arteriosclerosis, Thrombosis, and Vascular Biology, vol. 33, no 9, , p. 2267–2272 (PMID23685553, DOI10.1161/atvbaha.113.301218, S2CID182105)
Nadir MA, Struthers AD, « Antécédents familiaux de maladie coronarienne précoce et prédiction du risque », Heart, vol. 97, no 8, , p. 684; author reply 684 (PMID21367743, DOI10.1136/hrt.2011.222265, S2CID36394971)
B. Neale, « Genomic risk prediction of coronary artery disease in 480,000 adults: implications for primary prevention. » [« Recommandation des opinions de la faculté sur la prédiction du risque génomique de la maladie des artères coronaires chez 480 000 adultes : implications pour la prévention primaire. »], Journal of the American College of Cardiology, vol. 72, no 16, , p. 1883-1893 (DOI10.3410/f.734171897.793567857, S2CID212766426).
Sharp SA, Jones SE, Kimmitt RA, Weedon MN, Halpin AM, Wood AR, Beaumont RN, King S, van Heel DA, Campbell PM, Hagopian WA, Turner JM, Oram RA, « A single nucleotide polymorphism genetic risk score to aid diagnosis of coeliac disease: a pilot study in clinical care », Alimentary Pharmacology & Therapeutics, vol. 52, no 7, , p. 1165–1173 (PMID32790217, DOI10.1111/apt.15826, S2CID221127365)
McBride CM, Koehly LM, Sanderson SC, Kaphingst KA, « The behavioral response to personalized genetic information: will genetic risk profiles motivate individuals and families to choose more healthful behaviors? », Annual Review of Public Health, vol. 31, no 1, , p. 89–103 (PMID20070198, DOI10.1146/annurev.publhealth.012809.103532)
Saya S, McIntosh JG, Winship IM, Clendenning M, Milton S, Oberoi J, Dowty JG, Buchanan DD, Jenkins MA, Emery JD, « A Genomic Test for Colorectal Cancer Risk: Is This Acceptable and Feasible in Primary Care? », Public Health Genomics, vol. 23, nos 3–4, , p. 110–121 (PMID32688362, DOI10.1159/000508963, S2CID220669421)
Turnwald BP, Goyer JP, Boles DZ, Silder A, Delp SL, Crum AJ, « Learning one's genetic risk changes physiology independent of actual genetic risk », Nature Human Behaviour, vol. 3, no 1, , p. 48–56 (PMID30932047, PMCID6874306, DOI10.1038/s41562-018-0483-4)
Singh Y, « Effectiveness of Screening Programmes for Detection of Major Congenital Heart Diseases », European Journal of Pediatrics, vol. 175, no 11, , p. 1582 (DOI10.26226/morressier.57d034ced462b80292382f40)
Lello L, Raben TG, Yong SY, Tellier LC, Hsu SD, « Prédiction génomique de 16 risques de maladies complexes comprenant l'infarctus du myocarde, le diabète, le cancer du sein et de la prostate », Scientific Reports, vol. 9, no 1, , p. 15286 (PMID31653892, PMCID6814833, DOI10.1038/s41598-019-51258-x, Bibcode2019NatSR...915286L)
Torkamani A, Wineinger NE, Topol EJ, « The personal and clinical utility of polygenic risk scores », Nature Reviews. Genetics, vol. 19, no 9, , p. 581–590 (PMID29789686, DOI10.1038/s41576-018-0018-x, S2CID46893131)
Lambert SA, Abraham G, Inouye M, « Towards clinical utility of polygenic risk scores », Human Molecular Genetics, vol. 28, no R2, , R133–R142 (PMID31363735, DOI10.1093/hmg/ddz187)
de Vlaming R, Groenen PJ, « The Current and Future Use of Ridge Regression for Prediction in Quantitative Genetics », BioMed Research International, vol. 2015, , p. 143712 (PMID26273586, PMCID4529984, DOI10.1155/2015/143712)
Khera AV, Chaffin M, Aragam KG, Haas ME, Roselli C, Choi SH, Natarajan P, Lander ES, Lubitz SA, Ellinor PT, Kathiresan S, « Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations », Nature Genetics, vol. 50, no 9, , p. 1219–1224 (PMID30104762, PMCID6128408, DOI10.1038/s41588-018-0183-z)
Lello L, Raben TG, Yong SY, Tellier LC, Hsu SD, « Prédiction génomique de 16 risques de maladies complexes comprenant l'infarctus du myocarde, le diabète, le cancer du sein et de la prostate », Scientific Reports, vol. 9, no 1, , p. 15286 (PMID31653892, PMCID6814833, DOI10.1038/s41598-019-51258-x, Bibcode2019NatSR...915286L)
Visscher PM, Wray NR, Zhang Q, Sklar P, McCarthy MI, Brown MA, Yang J, « 10 ans de découverte GWAS : Biologie, fonction et traduction », American Journal of Human Genetics, vol. 101, no 1, , p. 5–22 (PMID28686856, PMCID5501872, DOI10.1016/j.ajhg.2017.06.005)
Spiliopoulou A, Nagy R, Bermingham ML, Huffman JE, Hayward C, Vitart V, Rudan I, Campbell H, Wright AF, Wilson JF, Pong-Wong R, Agakov F, Navarro P, Haley CS, « Prédiction génomique des traits humains complexes : parenté, architecture des traits et méta-modèles prédictifs », Human Molecular Genetics, vol. 24, no 14, , p. 4167–4182 (PMID25918167, PMCID4476450, DOI10.1093/hmg/ddv145)
Zeevi DA, Backenroth D, Hakam-Spector E, Renbaum P, Mann T, Zahdeh F, Segel R, Zeligson S, Eldar-Geva T, Ben-Ami I, Ben-Yehuda A, Carmi S, Altarescu G, « Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing », Genetics in Medicine, vol. 23, no 7, , p. 1334–1340 (PMID33772222, DOI10.1038/s41436-021-01145-6, S2CID232377300)
Treff NR, Zimmerman R, Bechor E, Hsu J, Rana B, Jensen J, Li J, Samoilenko A, Mowrey W, Van Alstine J, Leondires M, Miller K, Paganetti E, Lello L, Avery S, Hsu S, Melchior Tellier LC, « Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform », European Journal of Medical Genetics, vol. 62, no 8, , p. 103647 (PMID31026593, DOI10.1016/j.ejmg.2019.04.004)
Lázaro-Muñoz G, Pereira S, Carmi S, Lencz T, « Screening embryos for polygenic conditions and traits: ethical considerations for an emerging technology », Genetics in Medicine, vol. 23, no 3, , p. 432–434 (PMID33106616, PMCID7936952, DOI10.1038/s41436-020-01019-3)
Kemper JM, Gyngell C, Savulescu J, « Subsidizing PGD: The Moral Case for Funding Genetic Selection », Journal of Bioethical Inquiry, vol. 16, no 3, , p. 405–414 (PMID31418161, PMCID6831526, DOI10.1007/s11673-019-09932-2)
Richardson TG, Harrison S, Hemani G, Davey Smith G, « An atlas of polygenic risk score associations to highlight putative causal relationships across the human phenome », eLife, vol. 8, , e43657 (PMID30835202, PMCID6400585, DOI10.7554/eLife.43657)
Mavaddat N, Michailidou K, Dennis J, Lush M, Fachal L, Lee A, etal, « Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes », American Journal of Human Genetics, vol. 104, no 1, , p. 21–34 (PMID30554720, PMCID6323553, DOI10.1016/j.ajhg.2018.11.002)
Adebowale Adeyemo, Mary K. Balaconis, Deanna R. Darnes, Segun Fatumo, Palmira Granados Moreno, Chani J. Hodonsky, Michael Inouye, Masahiro Kanai, Kazuto Kato, Bartha M. Knoppers, Anna C. F. Lewis, Alicia R. Martin, Mark I. McCarthy, Michelle N. Meyer, Yukinori Okada, J. Brent Richards, Lucas Richter, Samuli Ripatti, Charles N. Rotimi, Saskia C. Sanderson, Amy C. Sturm, Ricardo A. Verdugo, Elisabeth Widen, Cristen J. Willer, Genevieve L. Wojcik et Alicia Zhou, « Utilisation responsable des scores de risque polygéniques en clinique : avantages potentiels, risques et lacunes », Nature Medicine, vol. 27, no 11, , p. 1876–1884 (PMID34782789, DOI10.1038/s41591-021-01549-6, S2CID244131258)
Ganna A, Magnusson PK, Pedersen NL, de Faire U, Reilly M, Arnlöv J, Sundström J, Hamsten A, Ingelsson E, « Scores de risque génétique multilocus pour la prédiction de la maladie coronarienne », Arteriosclerosis, Thrombosis, and Vascular Biology, vol. 33, no 9, , p. 2267–2272 (PMID23685553, DOI10.1161/atvbaha.113.301218, S2CID182105)
Nadir MA, Struthers AD, « Antécédents familiaux de maladie coronarienne précoce et prédiction du risque », Heart, vol. 97, no 8, , p. 684; author reply 684 (PMID21367743, DOI10.1136/hrt.2011.222265, S2CID36394971)
Sharp SA, Jones SE, Kimmitt RA, Weedon MN, Halpin AM, Wood AR, Beaumont RN, King S, van Heel DA, Campbell PM, Hagopian WA, Turner JM, Oram RA, « A single nucleotide polymorphism genetic risk score to aid diagnosis of coeliac disease: a pilot study in clinical care », Alimentary Pharmacology & Therapeutics, vol. 52, no 7, , p. 1165–1173 (PMID32790217, DOI10.1111/apt.15826, S2CID221127365)
McBride CM, Koehly LM, Sanderson SC, Kaphingst KA, « The behavioral response to personalized genetic information: will genetic risk profiles motivate individuals and families to choose more healthful behaviors? », Annual Review of Public Health, vol. 31, no 1, , p. 89–103 (PMID20070198, DOI10.1146/annurev.publhealth.012809.103532)
Saya S, McIntosh JG, Winship IM, Clendenning M, Milton S, Oberoi J, Dowty JG, Buchanan DD, Jenkins MA, Emery JD, « A Genomic Test for Colorectal Cancer Risk: Is This Acceptable and Feasible in Primary Care? », Public Health Genomics, vol. 23, nos 3–4, , p. 110–121 (PMID32688362, DOI10.1159/000508963, S2CID220669421)
Turnwald BP, Goyer JP, Boles DZ, Silder A, Delp SL, Crum AJ, « Learning one's genetic risk changes physiology independent of actual genetic risk », Nature Human Behaviour, vol. 3, no 1, , p. 48–56 (PMID30932047, PMCID6874306, DOI10.1038/s41562-018-0483-4)
(en) « PGS catalog », sur pgscatalog.org (consulté le )
« The Polygenic Score (PGS) Catalog », sur Polygenic Score (PGS) Catalog (consulté le ) : « An open database of polygenic scores and the relevant metadata required for accurate application and evaluation »
Torkamani A, Wineinger NE, Topol EJ, « The personal and clinical utility of polygenic risk scores », Nature Reviews. Genetics, vol. 19, no 9, , p. 581–590 (PMID29789686, DOI10.1038/s41576-018-0018-x, S2CID46893131)
Zeevi DA, Backenroth D, Hakam-Spector E, Renbaum P, Mann T, Zahdeh F, Segel R, Zeligson S, Eldar-Geva T, Ben-Ami I, Ben-Yehuda A, Carmi S, Altarescu G, « Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing », Genetics in Medicine, vol. 23, no 7, , p. 1334–1340 (PMID33772222, DOI10.1038/s41436-021-01145-6, S2CID232377300)
Ripke S, Walters JT, O'Donovan MC, « Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia », medRxiv, vol. preprint, (DOI10.1101/2020.09.12.20192922, S2CID221635239)
Adebowale Adeyemo, Mary K. Balaconis, Deanna R. Darnes, Segun Fatumo, Palmira Granados Moreno, Chani J. Hodonsky, Michael Inouye, Masahiro Kanai, Kazuto Kato, Bartha M. Knoppers, Anna C. F. Lewis, Alicia R. Martin, Mark I. McCarthy, Michelle N. Meyer, Yukinori Okada, J. Brent Richards, Lucas Richter, Samuli Ripatti, Charles N. Rotimi, Saskia C. Sanderson, Amy C. Sturm, Ricardo A. Verdugo, Elisabeth Widen, Cristen J. Willer, Genevieve L. Wojcik et Alicia Zhou, « Utilisation responsable des scores de risque polygéniques en clinique : avantages potentiels, risques et lacunes », Nature Medicine, vol. 27, no 11, , p. 1876–1884 (PMID34782789, DOI10.1038/s41591-021-01549-6, S2CID244131258)
Ganna A, Magnusson PK, Pedersen NL, de Faire U, Reilly M, Arnlöv J, Sundström J, Hamsten A, Ingelsson E, « Scores de risque génétique multilocus pour la prédiction de la maladie coronarienne », Arteriosclerosis, Thrombosis, and Vascular Biology, vol. 33, no 9, , p. 2267–2272 (PMID23685553, DOI10.1161/atvbaha.113.301218, S2CID182105)
Nadir MA, Struthers AD, « Antécédents familiaux de maladie coronarienne précoce et prédiction du risque », Heart, vol. 97, no 8, , p. 684; author reply 684 (PMID21367743, DOI10.1136/hrt.2011.222265, S2CID36394971)
B. Neale, « Genomic risk prediction of coronary artery disease in 480,000 adults: implications for primary prevention. » [« Recommandation des opinions de la faculté sur la prédiction du risque génomique de la maladie des artères coronaires chez 480 000 adultes : implications pour la prévention primaire. »], Journal of the American College of Cardiology, vol. 72, no 16, , p. 1883-1893 (DOI10.3410/f.734171897.793567857, S2CID212766426).
Sharp SA, Jones SE, Kimmitt RA, Weedon MN, Halpin AM, Wood AR, Beaumont RN, King S, van Heel DA, Campbell PM, Hagopian WA, Turner JM, Oram RA, « A single nucleotide polymorphism genetic risk score to aid diagnosis of coeliac disease: a pilot study in clinical care », Alimentary Pharmacology & Therapeutics, vol. 52, no 7, , p. 1165–1173 (PMID32790217, DOI10.1111/apt.15826, S2CID221127365)
Saya S, McIntosh JG, Winship IM, Clendenning M, Milton S, Oberoi J, Dowty JG, Buchanan DD, Jenkins MA, Emery JD, « A Genomic Test for Colorectal Cancer Risk: Is This Acceptable and Feasible in Primary Care? », Public Health Genomics, vol. 23, nos 3–4, , p. 110–121 (PMID32688362, DOI10.1159/000508963, S2CID220669421)