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The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms.
Walker K, Kalra D, Lowdon R, Chen G, Molik D, Soto DC, Dabbaghie F, Khleifat AA, Mahmoud M, Paulin LF, Raza MS, Pfeifer SP, Agustinho DP, Aliyev E, Avdeyev P, Barrozo ER, Behera S, Billingsley K, Chong LC, Choubey D, De Coster W, Fu Y, Gener AR, Hefferon T, Henke DM, Höps W, Illarionova A, Jochum MD, Jose M, Kesharwani RK, Kolora SRR, Kubica J, Lakra P, Lattimer D, Liew CS, Lo BW, Lo C, Lötter A, Majidian S, Mendem SK, Mondal R, Ohmiya H, Parvin N, Peralta C, Poon CL, Prabhakaran R, Saitou M, Sammi A, Sanio P, Sapoval N, Syed N, Treangen T, Wang G, Xu T, Yang J, Zhang S, Zhou W, Sedlazeck FJ, Busby B. Walker K, et al. Among authors: billingsley k. F1000Res. 2022 May 16;11:530. doi: 10.12688/f1000research.110194.1. eCollection 2022. F1000Res. 2022. PMID: 36262335 Free PMC article.
An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates.
Mc Cartney AM, Mahmoud M, Jochum M, Agustinho DP, Zorman B, Al Khleifat A, Dabbaghie F, K Kesharwani R, Smolka M, Dawood M, Albin D, Aliyev E, Almabrazi H, Arslan A, Balaji A, Behera S, Billingsley K, L Cameron D, Daw J, T Dawson E, De Coster W, Du H, Dunn C, Esteban R, Jolly A, Kalra D, Liao C, Liu Y, Lu TY, M Havrilla J, M Khayat M, Marin M, Monlong J, Price S, Rafael Gener A, Ren J, Sagayaradj S, Sapoval N, Sinner C, C Soto D, Soylev A, Subramaniyan A, Syed N, Tadimeti N, Tater P, Vats P, Vaughn J, Walker K, Wang G, Zeng Q, Zhang S, Zhao T, Kille B, Biederstedt E, Chaisson M, English A, Kronenberg Z, J Treangen T, Hefferon T, Chin CS, Busby B, J Sedlazeck F. Mc Cartney AM, et al. Among authors: k kesharwani r, billingsley k. F1000Res. 2021 Mar 26;10:246. doi: 10.12688/f1000research.51477.2. eCollection 2021. F1000Res. 2021. PMID: 34621504 Free PMC article.
Genome-Wide Analysis of Structural Variants in Parkinson Disease.
Billingsley KJ, Ding J, Jerez PA, Illarionova A, Levine K, Grenn FP, Makarious MB, Moore A, Vitale D, Reed X, Hernandez D, Torkamani A, Ryten M, Hardy J; UK Brain Expression Consortium (UKBEC); Chia R, Scholz SW, Traynor BJ, Dalgard CL, Ehrlich DJ, Tanaka T, Ferrucci L, Beach TG, Serrano GE, Quinn JP, Bubb VJ, Collins RL, Zhao X, Walker M, Pierce-Hoffman E, Brand H, Talkowski ME, Casey B, Cookson MR, Markham A, Nalls MA, Mahmoud M, Sedlazeck FJ, Blauwendraat C, Gibbs JR, Singleton AB. Billingsley KJ, et al. Ann Neurol. 2023 May;93(5):1012-1022. doi: 10.1002/ana.26608. Epub 2023 Feb 3. Ann Neurol. 2023. PMID: 36695634 Free PMC article.
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation.
Kolmogorov M, Billingsley KJ, Mastoras M, Meredith M, Monlong J, Lorig-Roach R, Asri M, Jerez PA, Malik L, Dewan R, Reed X, Genner RM, Daida K, Behera S, Shafin K, Pesout T, Prabakaran J, Carnevali P; North American Brain Expression Consortium (NABEC); Yang J, Rhie A, Scholz SW, Traynor BJ, Miga KH, Jain M, Timp W, Phillippy AM, Chaisson M, Sedlazeck FJ, Blauwendraat C, Paten B. Kolmogorov M, et al. Among authors: billingsley kj. bioRxiv [Preprint]. 2023 Apr 5:2023.01.12.523790. doi: 10.1101/2023.01.12.523790. bioRxiv. 2023. PMID: 36711673 Free PMC article. Updated. Preprint.
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation.
Kolmogorov M, Billingsley KJ, Mastoras M, Meredith M, Monlong J, Lorig-Roach R, Asri M, Alvarez Jerez P, Malik L, Dewan R, Reed X, Genner RM, Daida K, Behera S, Shafin K, Pesout T, Prabakaran J, Carnevali P, Yang J, Rhie A, Scholz SW, Traynor BJ, Miga KH, Jain M, Timp W, Phillippy AM, Chaisson M, Sedlazeck FJ, Blauwendraat C, Paten B. Kolmogorov M, et al. Among authors: billingsley kj. Nat Methods. 2023 Oct;20(10):1483-1492. doi: 10.1038/s41592-023-01993-x. Epub 2023 Sep 14. Nat Methods. 2023. PMID: 37710018
The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism.
Bressan E, Reed X, Bansal V, Hutchins E, Cobb MM, Webb MG, Alsop E, Grenn FP, Illarionova A, Savytska N, Violich I, Broeer S, Fernandes N, Sivakumar R, Beilina A, Billingsley KJ, Berghausen J, Pantazis CB, Pitz V, Patel D, Daida K, Meechoovet B, Reiman R, Courtright-Lim A, Logemann A, Antone J, Barch M, Kitchen R, Li Y, Dalgard CL; American Genome Center; Rizzu P, Hernandez DG, Hjelm BE, Nalls M, Gibbs JR, Finkbeiner S, Cookson MR, Van Keuren-Jensen K, Craig DW, Singleton AB, Heutink P, Blauwendraat C. Bressan E, et al. Among authors: billingsley kj. Cell Genom. 2023 Feb 6;3(3):100261. doi: 10.1016/j.xgen.2023.100261. eCollection 2023 Mar 8. Cell Genom. 2023. PMID: 36950378 Free PMC article.
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease.
Bandres-Ciga S, Saez-Atienzar S, Bonet-Ponce L, Billingsley K, Vitale D, Blauwendraat C, Gibbs JR, Pihlstrøm L, Gan-Or Z; International Parkinson's Disease Genomics Consortium (IPDGC); Cookson MR, Nalls MA, Singleton AB. Bandres-Ciga S, et al. Among authors: billingsley k. Mov Disord. 2019 Apr;34(4):460-468. doi: 10.1002/mds.27614. Epub 2019 Jan 24. Mov Disord. 2019. PMID: 30675927 Free PMC article.
Large-scale rare variant burden testing in Parkinson's disease.
Makarious MB, Lake J, Pitz V, Ye Fu A, Guidubaldi JL, Solsberg CW, Bandres-Ciga S, Leonard HL, Kim JJ, Billingsley KJ, Grenn FP, Jerez PA, Alvarado CX, Iwaki H, Ta M, Vitale D, Hernandez D, Torkamani A, Ryten M, Hardy J; UK Brain Expression Consortium (UKBEC),; Scholz SW, Traynor BJ, Dalgard CL, Ehrlich DJ, Tanaka T, Ferrucci L, Beach TG, Serrano GE, Real R, Morris HR, Ding J, Gibbs JR, Singleton AB, Nalls MA, Bhangale T, Blauwendraat C. Makarious MB, et al. Brain. 2023 Nov 2;146(11):4622-4632. doi: 10.1093/brain/awad214. Brain. 2023. PMID: 37348876 Free PMC article.
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.
Dolzhenko E, Weisburd B, Ibañez K, Rajan-Babu IS, Anyansi C, Bennett MF, Billingsley K, Carroll A, Clamons S, Danzi MC, Deshpande V, Ding J, Fazal S, Halman A, Jadhav B, Qiu Y, Richmond PA, Saunders CT, Scheffler K, van Vugt JJFA, Zwamborn RRAJ; Genomics England Research Consortium; Chong SS, Friedman JM, Tucci A, Rehm HL, Eberle MA. Dolzhenko E, et al. Among authors: billingsley k. Genome Med. 2022 Aug 11;14(1):84. doi: 10.1186/s13073-022-01085-z. Genome Med. 2022. PMID: 35948990 Free PMC article.
182 results