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Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes.
Karczewski KJ, Solomonson M, Chao KR, Goodrich JK, Tiao G, Lu W, Riley-Gillis BM, Tsai EA, Kim HI, Zheng X, Rahimov F, Esmaeeli S, Grundstad AJ, Reppell M, Waring J, Jacob H, Sexton D, Bronson PG, Chen X, Hu X, Goldstein JI, King D, Vittal C, Poterba T, Palmer DS, Churchhouse C, Howrigan DP, Zhou W, Watts NA, Nguyen K, Nguyen H, Mason C, Farnham C, Tolonen C, Gauthier LD, Gupta N, MacArthur DG, Rehm HL, Seed C, Philippakis AA, Daly MJ, Davis JW, Runz H, Miller MR, Neale BM. Karczewski KJ, et al. Among authors: neale bm. Cell Genom. 2022 Aug 15;2(9):100168. doi: 10.1016/j.xgen.2022.100168. eCollection 2022 Sep 14. Cell Genom. 2022. PMID: 36778668 Free PMC article.
FAVOR: functional annotation of variants online resource and annotator for variation across the human genome.
Zhou H, Arapoglou T, Li X, Li Z, Zheng X, Moore J, Asok A, Kumar S, Blue EE, Buyske S, Cox N, Felsenfeld A, Gerstein M, Kenny E, Li B, Matise T, Philippakis A, Rehm HL, Sofia HJ, Snyder G; NHGRI Genome Sequencing Program Variant Functional Annotation Working Group; Weng Z, Neale B, Sunyaev SR, Lin X. Zhou H, et al. Nucleic Acids Res. 2023 Jan 6;51(D1):D1300-D1311. doi: 10.1093/nar/gkac966. Nucleic Acids Res. 2023. PMID: 36350676 Free PMC article.
Proteome-wide Mendelian randomization in global biobank meta-analysis reveals multi-ancestry drug targets for common diseases.
Zhao H, Rasheed H, Nøst TH, Cho Y, Liu Y, Bhatta L, Bhattacharya A; Global Biobank Meta-analysis Initiative; Hemani G, Davey Smith G, Brumpton BM, Zhou W, Neale BM, Gaunt TR, Zheng J. Zhao H, et al. Among authors: neale bm. Cell Genom. 2022 Nov 9;2(11):None. doi: 10.1016/j.xgen.2022.100195. Cell Genom. 2022. PMID: 36388766 Free PMC article.
Multi-ancestry meta-analysis of asthma identifies novel associations and highlights the value of increased power and diversity.
Tsuo K, Zhou W, Wang Y, Kanai M, Namba S, Gupta R, Majara L, Nkambule LL, Morisaki T, Okada Y, Neale BM; Global Biobank Meta-analysis Initiative; Daly MJ, Martin AR. Tsuo K, et al. Among authors: neale bm. Cell Genom. 2022 Nov 8;2(12):100212. doi: 10.1016/j.xgen.2022.100212. eCollection 2022 Dec 14. Cell Genom. 2022. PMID: 36778051 Free PMC article.
Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.
Neale BM, Medland SE, Ripke S, Asherson P, Franke B, Lesch KP, Faraone SV, Nguyen TT, Schäfer H, Holmans P, Daly M, Steinhausen HC, Freitag C, Reif A, Renner TJ, Romanos M, Romanos J, Walitza S, Warnke A, Meyer J, Palmason H, Buitelaar J, Vasquez AA, Lambregts-Rommelse N, Gill M, Anney RJ, Langely K, O'Donovan M, Williams N, Owen M, Thapar A, Kent L, Sergeant J, Roeyers H, Mick E, Biederman J, Doyle A, Smalley S, Loo S, Hakonarson H, Elia J, Todorov A, Miranda A, Mulas F, Ebstein RP, Rothenberger A, Banaschewski T, Oades RD, Sonuga-Barke E, McGough J, Nisenbaum L, Middleton F, Hu X, Nelson S; Psychiatric GWAS Consortium: ADHD Subgroup. Neale BM, et al. J Am Acad Child Adolesc Psychiatry. 2010 Sep;49(9):884-97. doi: 10.1016/j.jaac.2010.06.008. Epub 2010 Aug 1. J Am Acad Child Adolesc Psychiatry. 2010. PMID: 20732625 Free PMC article.
Bayesian multivariate genetic analysis improves translational insights.
Urbut SM, Koyama S, Hornsby W, Bhukar R, Kheterpal S, Truong B, Selvaraj MS, Neale B, O'Donnell CJ, Peloso GM, Natarajan P. Urbut SM, et al. iScience. 2023 Sep 9;26(10):107854. doi: 10.1016/j.isci.2023.107854. eCollection 2023 Oct 20. iScience. 2023. PMID: 37766997 Free PMC article.
Ancestry: How researchers use it and what they mean by it.
Dauda B, Molina SJ, Allen DS, Fuentes A, Ghosh N, Mauro M, Neale BM, Panofsky A, Sohail M, Zhang SR, Lewis ACF. Dauda B, et al. Among authors: neale bm. Front Genet. 2023 Jan 23;14:1044555. doi: 10.3389/fgene.2023.1044555. eCollection 2023. Front Genet. 2023. PMID: 36755575 Free PMC article.
GUIDE deconstructs genetic architectures using association studies.
Lazarev D, Chau G, Bloemendal A, Churchhouse C, Neale BM. Lazarev D, et al. Among authors: neale bm. bioRxiv [Preprint]. 2024 May 6:2024.05.03.592285. doi: 10.1101/2024.05.03.592285. bioRxiv. 2024. PMID: 38766146 Free PMC article. Preprint.
A harmonized public resource of deeply sequenced diverse human genomes.
Koenig Z, Yohannes MT, Nkambule LL, Zhao X, Goodrich JK, Kim HA, Wilson MW, Tiao G, Hao SP, Sahakian N, Chao KR, Walker MA, Lyu Y; gnomAD Project Consortium; Rehm H, Neale BM, Talkowski ME, Daly MJ, Brand H, Karczewski KJ, Atkinson EG, Martin AR. Koenig Z, et al. Among authors: neale bm. Genome Res. 2024 May 15:gr.278378.123. doi: 10.1101/gr.278378.123. Online ahead of print. Genome Res. 2024. PMID: 38749656
364 results