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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2007 4
2008 3
2009 1
2010 1
2011 4
2012 2
2013 3
2014 8
2015 9
2016 5
2017 11
2018 14
2019 8
2020 18
2021 15
2022 15
2023 25
2024 26
2025 8

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173 results

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Page 1
Complete sequencing of ape genomes.
Yoo D, Rhie A, Hebbar P, Antonacci F, Logsdon GA, Solar SJ, Antipov D, Pickett BD, Safonova Y, Montinaro F, Luo Y, Malukiewicz J, Storer JM, Lin J, Sequeira AN, Mangan RJ, Hickey G, Monfort Anez G, Balachandran P, Bankevich A, Beck CR, Biddanda A, Borchers M, Bouffard GG, Brannan E, Brooks SY, Carbone L, Carrel L, Chan AP, Crawford J, Diekhans M, Engelbrecht E, Feschotte C, Formenti G, Garcia GH, de Gennaro L, Gilbert D, Green RE, Guarracino A, Gupta I, Haddad D, Han J, Harris RS, Hartley GA, Harvey WT, Hiller M, Hoekzema K, Houck ML, Jeong H, Kamali K, Kellis M, Kille B, Lee C, Lee Y, Lees W, Lewis AP, Li Q, Loftus M, Loh YHE, Loucks H, Ma J, Mao Y, Martinez JFI, Masterson P, McCoy RC, McGrath B, McKinney S, Meyer BS, Miga KH, Mohanty SK, Munson KM, Pal K, Pennell M, Pevzner PA, Porubsky D, Potapova T, Ringeling FR, Rocha JL, Ryder OA, Sacco S, Saha S, Sasaki T, Schatz MC, Schork NJ, Shanks C, Smeds L, Son DR, Steiner C, Sweeten AP, Tassia MG, Thibaud-Nissen F, Torres-González E, Trivedi M, Wei W, Wertz J, Yang M, Zhang P, Zhang S, Zhang Y, Zhang Z, Zhao SA, Zhu Y, Jarvis ED, Gerton JL, Rivas-González I, Paten B, Szpiech ZA, Huber CD, Lenz TL, Konkel MK, Yi SV, Canzar S, W… See abstract for full author list ➔ Yoo D, et al. Among authors: paten b. Nature. 2025 Apr 9. doi: 10.1038/s41586-025-08816-3. Online ahead of print. Nature. 2025. PMID: 40205052
Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing.
Keskus AG, Bryant A, Ahmad T, Yoo B, Aganezov S, Goretsky A, Donmez A, Lansdon LA, Rodriguez I, Park J, Liu Y, Cui X, Gardner J, McNulty B, Sacco S, Shetty J, Zhao Y, Tran B, Narzisi G, Helland A, Cook DE, Chang PC, Kolesnikov A, Carroll A, Molloy EK, Bi C, Walter A, Gibson M, Pushel I, Guest E, Pastinen T, Shafin K, Miga KH, Malikic S, Day CP, Robine N, Sahinalp C, Dean M, Farooqi MS, Paten B, Kolmogorov M. Keskus AG, et al. Among authors: paten b. Nat Biotechnol. 2025 Apr 4. doi: 10.1038/s41587-025-02618-8. Online ahead of print. Nat Biotechnol. 2025. PMID: 40185952
Genetic diversity and regulatory features of human-specific NOTCH2NL duplications.
Real TD, Hebbar P, Yoo D, Antonacci F, Pačar I, Diekhans M, Mikol GJ, Popoola OG, Mallory BJ, Vollger MR, Dishuck PC, Guitart X, Rozanski AN, Munson KM, Hoekzema K, Ranchalis JE, Neph SJ, Sedeño-Cortes AE, Paten B, Salama SR, Stergachis AB, Eichler EE. Real TD, et al. Among authors: paten b. bioRxiv [Preprint]. 2025 Mar 17:2025.03.14.643395. doi: 10.1101/2025.03.14.643395. bioRxiv. 2025. PMID: 40166283 Free PMC article. Preprint.
Long-read sequencing resolves the clinically relevant CYP21A2 locus, supporting a new clinical test for Congenital Adrenal Hyperplasia.
Monlong J, Chen X, Barseghyan H, Rowell WJ, Negi S, Nokoff N, Mohnach L, Hirsch J, Finlayson C, Keegan CE, Almalvez M, Berger SI, de Dios I, McNulty B, Robertson A, Miga KH, Speiser PW, Paten B, Vilain E, Délot EC. Monlong J, et al. Among authors: paten b. medRxiv [Preprint]. 2025 Feb 10:2025.02.07.25321404. doi: 10.1101/2025.02.07.25321404. medRxiv. 2025. PMID: 39990550 Free PMC article. Preprint.
Genetic regulation of TERT splicing affects cancer risk by altering cellular longevity and replicative potential.
Florez-Vargas O, Ho M, Hogshead MH, Papenberg BW, Lee CH, Forsythe K, Jones K, Luo W, Teshome K, Blauwendraat C, Billingsley KJ, Kolmogorov M, Meredith M, Paten B, Chari R, Zhang C, Schneekloth JS, Machiela MJ, Chanock SJ, Gadalla SM, Savage SA, Mbulaiteye SM, Prokunina-Olsson L. Florez-Vargas O, et al. Among authors: paten b. Nat Commun. 2025 Feb 16;16(1):1676. doi: 10.1038/s41467-025-56947-y. Nat Commun. 2025. PMID: 39956830 Free PMC article.
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.
Negi S, Stenton SL, Berger SI, Canigiula P, McNulty B, Violich I, Gardner J, Hillaker T, O'Rourke SM, O'Leary MC, Carbonell E, Austin-Tse C, Lemire G, Serrano J, Mangilog B, VanNoy G, Kolmogorov M, Vilain E, O'Donnell-Luria A, Délot E, Miga KH, Monlong J, Paten B. Negi S, et al. Among authors: paten b. Am J Hum Genet. 2025 Feb 6;112(2):428-449. doi: 10.1016/j.ajhg.2025.01.002. Epub 2025 Jan 24. Am J Hum Genet. 2025. PMID: 39862869
Genetic regulation of TERT splicing contributes to reduced or elevated cancer risk by altering cellular longevity and replicative potential.
Florez-Vargas O, Ho M, Hogshead M, Lee CH, Papenberg BW, Forsythe K, Jones K, Luo W, Teshome K, Blauwendraat C, Billingsley KJ, Kolmogorov M, Meredith M, Paten B, Chari R, Zhang C, Schneekloth JS, Machiela MJ, Chanock SJ, Gadalla S, Savage SA, Mbulaiteye SM, Prokunina-Olsson L. Florez-Vargas O, et al. Among authors: paten b. medRxiv [Preprint]. 2024 Nov 5:2024.11.04.24316722. doi: 10.1101/2024.11.04.24316722. medRxiv. 2024. Update in: Nat Commun. 2025 Feb 16;16(1):1676. doi: 10.1038/s41467-025-56947-y. PMID: 39802763 Free PMC article. Updated. Preprint.
Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation.
Billingsley KJ, Meredith M, Daida K, Jerez PA, Negi S, Malik L, Genner RM, Moller A, Zheng X, Gibson SB, Mastoras M, Baker B, Kouam C, Paquette K, Jarreau P, Makarious MB, Moore A, Hong S, Vitale D, Shah S, Monlong J, Pantazis CB, Asri M, Shafin K, Carnevali P, Marenco S, Auluck P, Mandal A, Miga KH, Rhie A, Reed X, Ding J, Cookson MR, Nalls M, Singleton A, Miller DE, Chaisson M, Timp W, Gibbs JR, Phillippy AM, Kolmogorov M, Jain M, Sedlazeck FJ, Paten B, Blauwendraat C. Billingsley KJ, et al. Among authors: paten b. bioRxiv [Preprint]. 2024 Dec 17:2024.12.16.628723. doi: 10.1101/2024.12.16.628723. bioRxiv. 2024. PMID: 39764002 Free PMC article. Preprint.
GENCODE 2025: reference gene annotation for human and mouse.
Mudge JM, Carbonell-Sala S, Diekhans M, Martinez JG, Hunt T, Jungreis I, Loveland JE, Arnan C, Barnes I, Bennett R, Berry A, Bignell A, Cerdán-Vélez D, Cochran K, Cortés LT, Davidson C, Donaldson S, Dursun C, Fatima R, Hardy M, Hebbar P, Hollis Z, James BT, Jiang Y, Johnson R, Kaur G, Kay M, Mangan RJ, Maquedano M, Gómez LM, Mathlouthi N, Merritt R, Ni P, Palumbo E, Perteghella T, Pozo F, Raj S, Sisu C, Steed E, Sumathipala D, Suner MM, Uszczynska-Ratajczak B, Wass E, Yang YT, Zhang D, Finn RD, Gerstein M, Guigó R, Hubbard TJP, Kellis M, Kundaje A, Paten B, Tress ML, Birney E, Martin FJ, Frankish A. Mudge JM, et al. Among authors: paten b. Nucleic Acids Res. 2025 Jan 6;53(D1):D966-D975. doi: 10.1093/nar/gkae1078. Nucleic Acids Res. 2025. PMID: 39565199 Free PMC article.
173 results