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PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis.
Ogloblinsky MC, Bocher O, Aloui C, Leutenegger AL, Ozisik O, Baudot A, Tournier-Lasserve E, Castillo-Madeen H, Lewinsohn D, Conrad DF, Génin E, Marenne G. Ogloblinsky MC, et al. Among authors: marenne g. Genet Epidemiol. 2024 Sep 24. doi: 10.1002/gepi.22593. Online ahead of print. Genet Epidemiol. 2024. PMID: 39318036 Free article.
Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.
Willems SM, Ng NHJ, Fernandez J, Fine RS, Wheeler E, Wessel J, Kitajima H, Marenne G, Sim X, Yaghootkar H, Wang S, Chen S, Chen Y, Chen YI, Grarup N, Li-Gao R, Varga TV, Asimit JL, Feng S, Strawbridge RJ, Kleinbrink EL, Ahluwalia TS, An P, Appel EV, Arking DE, Auvinen J, Bielak LF, Bihlmeyer NA, Bork-Jensen J, Brody JA, Campbell A, Chu AY, Davies G, Demirkan A, Floyd JS, Giulianini F, Guo X, Gustafsson S, Jackson AU, Jakobsdottir J, Järvelin MR, Jensen RA, Kanoni S, Keinanen-Kiukaanniemi S, Li M, Lu Y, Luan J, Manning AK, Marten J, Meidtner K, Mook-Kanamori DO, Muka T, Pistis G, Prins B, Rice KM, Sanna S, Smith AV, Smith JA, Southam L, Stringham HM, Tragante V, van der Laan SW, Warren HR, Yao J, Yiorkas AM, Zhang W, Zhao W, Graff M, Highland HM, Justice AE, Marouli E, Medina-Gomez C, Afaq S, Alhejily WA, Amin N, Asselbergs FW, Bonnycastle LL, Bots ML, Brandslund I, Chen J, Danesh J, de Mutsert R, Dehghan A, Ebeling T, Elliott P; EPIC-Interact Consortium; Farmaki AE, Faul JD, Franks PW, Franks S, Fritsche A, Gjesing AP, Goodarzi MO, Gudnason V, Hallmans G, Harris TB, Herzig KH, Hivert MF, Jørgensen T, Jørgensen ME, Jousilahti P, Kajantie E, Karaleftheri M, Kardia SLR, Kinnun… See abstract for full author list ➔ Willems SM, et al. Among authors: marenne g. Wellcome Open Res. 2023 Oct 20;8:483. doi: 10.12688/wellcomeopenres.18754.1. eCollection 2023. Wellcome Open Res. 2023. PMID: 39280063 Free PMC article.
Human genetic structure in Northwest France provides new insights into West European historical demography.
Alves I, Giemza J, Blum MGB, Bernhardsson C, Chatel S, Karakachoff M, Saint Pierre A, Herzig AF, Olaso R, Monteil M, Gallien V, Cabot E, Svensson E, Bacq D, Baron E, Berthelier C, Besse C, Blanché H, Bocher O, Boland A, Bonnaud S, Charpentier E, Dandine-Roulland C, Férec C, Fruchet C, Lecointe S, Le Floch E, Ludwig TE, Marenne G, Meyer V, Quellery E, Racimo F, Rouault K, Sandron F, Schott JJ, Velo-Suarez L, Violleau J, Willerslev E, Coativy Y, Jézéquel M, Le Bris D, Nicolas C, Pailler Y, Goldberg M, Zins M, Le Marec H, Jakobsson M, Darlu P, Génin E, Deleuze JF, Redon R, Dina C. Alves I, et al. Among authors: marenne g. Nat Commun. 2024 Aug 7;15(1):6710. doi: 10.1038/s41467-024-51087-1. Nat Commun. 2024. PMID: 39112481 Free PMC article.
SMIM1 absence is associated with reduced energy expenditure and excess weight.
Stefanucci L, Moslemi C, Tomé AR, Virtue S, Bidault G, Gleadall NS, Watson LPE, Kwa JE, Burden F, Farrow S; DBDS Genetic Consortium; Chen J; MAGIC; Võsa U, Burling K, Walker L, Ord J, Barker P, Warner J, Frary A, Renhstrom K, Ashford SE, Piper J, Biggs G, Erber WN, Hoffman GJ, Schoenmakers N, Erikstrup C, Rieneck K, Dziegiel MH, Ullum H, Azzu V, Vacca M, Aparicio HJ, Hui Q, Cho K, Sun YV, Wilson PW, Bayraktar OA, Vidal-Puig A, Ostrowski SR, Astle WJ, Olsson ML, Storry JR, Pedersen OB, Ouwehand WH, Chatterjee K, Vuckovic D, Frontini M. Stefanucci L, et al. Med. 2024 Sep 13;5(9):1083-1095.e6. doi: 10.1016/j.medj.2024.05.015. Epub 2024 Jun 20. Med. 2024. PMID: 38906141 Free article.
How local reference panels improve imputation in French populations.
Herzig AF, Velo-Suárez L; FrEx Consortium; FranceGenRef Consortium; Dina C, Redon R, Deleuze JF, Génin E. Herzig AF, et al. Sci Rep. 2024 Jan 3;14(1):370. doi: 10.1038/s41598-023-49931-3. Sci Rep. 2024. PMID: 38172507 Free PMC article.
Genome-wide association analysis identifies ancestry-specific genetic variation associated with acute response to metformin and glipizide in SUGAR-MGH.
Li JH, Brenner LN, Kaur V, Figueroa K, Schroeder P, Huerta-Chagoya A; MAGIC Investigators; Diabetes Prevention Program (DPP) Research Group; Udler MS, Leong A, Mercader JM, Florez JC. Li JH, et al. Diabetologia. 2023 Jul;66(7):1260-1272. doi: 10.1007/s00125-023-05922-7. Epub 2023 May 26. Diabetologia. 2023. PMID: 37233759 Free PMC article.
Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score.
Bocher O, Ludwig TE, Oglobinsky MS, Marenne G, Deleuze JF, Suryakant S, Odeberg J, Morange PE, Trégouët DA, Perdry H, Génin E. Bocher O, et al. Among authors: marenne g. PLoS Genet. 2022 Sep 16;18(9):e1009923. doi: 10.1371/journal.pgen.1009923. eCollection 2022 Sep. PLoS Genet. 2022. PMID: 36112662 Free PMC article.
44 results