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A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner.
Boltz TA, Chu BB, Liao C, Sealock JM, Ye R, Majara L, Fu JM, Service S, Zhan L, Medland SE, Chapman SB, Rubinacci S, DeFelice M, Grimsby JL, Abebe T, Alemayehu M, Ashaba FK, Atkinson EG, Bigdeli T, Bradway AB, Brand H, Chibnik LB, Fekadu A, Gatzen M, Gelaye B, Gichuru S, Gildea ML, Hill TC, Huang H, Hubbard KM, Injera WE, James R, Joloba M, Kachulis C, Kalmbach PR, Kamulegeya R, Kigen G, Kim S, Koen N, Kwobah EK, Kyebuzibwa J, Lee S, Lennon NJ, Lind PA, Lopera-Maya EA, Makale J, Mangul S, McMahon J, Mowlem P, Musinguzi H, Mwema RM, Nakasujja N, Newman CP, Nkambule LL, O'Neil CR, Olivares AM, Olsen CM, Ongeri L, Parsa SJ, Pretorius A, Ramesar R, Reagan FL, Sabatti C, Schneider JA, Shiferaw W, Stevenson A, Stricker E, Stroud RE 2nd, Tang J, Whiteman D, Yohannes MT, Yu M, Yuan K; NeuroGAP-Psychosis; Akena D, Atwoli L, Kariuki SM, Koenen KC, Newton CRJC, Stein DJ, Teferra S, Zingela Z, Pato CN, Pato MT, Lopez-Jaramillo C, Freimer N, Ophoff RA, Olde Loohuis LM, Talkowski ME, Neale BM, Howrigan DP, Martin AR. Boltz TA, et al. Among authors: nkambule ll. bioRxiv [Preprint]. 2024 Sep 8:2024.09.06.611689. doi: 10.1101/2024.09.06.611689. bioRxiv. 2024. PMID: 39282356 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 HL, Neale BM, Talkowski ME, Daly MJ, Brand H, Karczewski KJ, Atkinson EG, Martin AR. Koenig Z, et al. Among authors: nkambule ll. Genome Res. 2024 Jun 25;34(5):796-809. doi: 10.1101/gr.278378.123. Genome Res. 2024. PMID: 38749656 Free PMC article.
Phenotype and genetic analysis of data collected within the first year of NeuroDev.
Kipkemoi P, Kim HA, Christ B, O'Heir E, Allen J, Austin-Tse C, Baxter S, Brand H, Bryant S, Buser N, de Menil V, Eastman E, Murugasen S, Galvin A, Kombe M, Ngombo A, Mkubwa B, Mwangi P, Kipkoech C, Lovgren A, MacArthur DG, Melly B, Mwangasha K, Martin A, Nkambule LL, Sanchis-Juan A, Singer-Berk M, Talkowski ME, VanNoy G, van der Merwe C; NeuroDev Project; Newton C, O'Donnell-Luria A, Abubakar A, Donald KA, Robinson EB. Kipkemoi P, et al. Among authors: nkambule ll. Neuron. 2023 Sep 20;111(18):2800-2810.e5. doi: 10.1016/j.neuron.2023.06.010. Epub 2023 Jul 17. Neuron. 2023. PMID: 37463579 Free 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: nkambule ll. 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.
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 HL, Neale BM, Talkowski ME, Daly MJ, Brand H, Karczewski KJ, Atkinson EG, Martin AR. Koenig Z, et al. Among authors: nkambule ll. bioRxiv [Preprint]. 2024 Feb 28:2023.01.23.525248. doi: 10.1101/2023.01.23.525248. bioRxiv. 2024. Update in: Genome Res. 2024 Jun 25;34(5):796-809. doi: 10.1101/gr.278378.123. PMID: 36747613 Free PMC article. Updated. Preprint.