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Page 1
Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation.
Yilmaz F, Karageorgiou C, Kim K, Pajic P, Scheer K; Human Genome Structural Variation Consortium; Beck CR, Torregrossa AM, Lee C, Gokcumen O, Audano PA, Austine-Orimoloye O, Beck CR, Eichler EE, Hallast P, Harvey WT, Hastie AR, Hoekzema K, Hunt S, Korbel JO, Kordosky J, Lee C, Lewis AP, Marschall T, Munson KM, Pang A, Yilmaz F. Yilmaz F, et al. Among authors: audano pa. Science. 2024 Nov 22;386(6724):eadn0609. doi: 10.1126/science.adn0609. Epub 2024 Nov 22. Science. 2024. PMID: 39418342
Complex genetic variation in nearly complete human genomes.
Logsdon GA, Ebert P, Audano PA, Loftus M, Porubsky D, Ebler J, Yilmaz F, Hallast P, Prodanov T, Yoo D, Paisie CA, Harvey WT, Zhao X, Martino GV, Henglin M, Munson KM, Rabbani K, Chin CS, Gu B, Ashraf H, Austine-Orimoloye O, Balachandran P, Bonder MJ, Cheng H, Chong Z, Crabtree J, Gerstein M, Guethlein LA, Hasenfeld P, Hickey G, Hoekzema K, Hunt SE, Jensen M, Jiang Y, Koren S, Kwon Y, Li C, Li H, Li J, Norman PJ, Oshima KK, Paten B, Phillippy AM, Pollock NR, Rausch T, Rautiainen M, Scholz S, Song Y, Söylev A, Sulovari A, Surapaneni L, Tsapalou V, Zhou W, Zhou Y, Zhu Q, Zody MC, Mills RE, Devine SE, Shi X, Talkowski ME, Chaisson MJP, Dilthey AT, Konkel MK, Korbel JO, Lee C, Beck CR, Eichler EE, Marschall T. Logsdon GA, et al. Among authors: audano pa. bioRxiv [Preprint]. 2024 Sep 25:2024.09.24.614721. doi: 10.1101/2024.09.24.614721. bioRxiv. 2024. PMID: 39372794 Free PMC article. Preprint.
A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome.
Werren EA, Kalsner L, Ewald J, Peracchio M, King C, Vats P, Audano PA, Robinson PN, Adams MD, Kelly MA, Matson AP. Werren EA, et al. Among authors: audano pa. bioRxiv [Preprint]. 2024 Apr 22:2024.04.18.590108. doi: 10.1101/2024.04.18.590108. bioRxiv. 2024. PMID: 38712026 Free PMC article. Preprint.
Structurally divergent and recurrently mutated regions of primate genomes.
Mao Y, Harvey WT, Porubsky D, Munson KM, Hoekzema K, Lewis AP, Audano PA, Rozanski A, Yang X, Zhang S, Yoo D, Gordon DS, Fair T, Wei X, Logsdon GA, Haukness M, Dishuck PC, Jeong H, Del Rosario R, Bauer VL, Fattor WT, Wilkerson GK, Mao Y, Shi Y, Sun Q, Lu Q, Paten B, Bakken TE, Pollen AA, Feng G, Sawyer SL, Warren WC, Carbone L, Eichler EE. Mao Y, et al. Among authors: audano pa. Cell. 2024 Mar 14;187(6):1547-1562.e13. doi: 10.1016/j.cell.2024.01.052. Epub 2024 Feb 29. Cell. 2024. PMID: 38428424 Free article.
Utility of long-read sequencing for All of Us.
Mahmoud M, Huang Y, Garimella K, Audano PA, Wan W, Prasad N, Handsaker RE, Hall S, Pionzio A, Schatz MC, Talkowski ME, Eichler EE, Levy SE, Sedlazeck FJ. Mahmoud M, et al. Among authors: audano pa. Nat Commun. 2024 Jan 29;15(1):837. doi: 10.1038/s41467-024-44804-3. Nat Commun. 2024. PMID: 38281971 Free PMC article.
Assembly of 43 human Y chromosomes reveals extensive complexity and variation.
Hallast P, Ebert P, Loftus M, Yilmaz F, Audano PA, Logsdon GA, Bonder MJ, Zhou W, Höps W, Kim K, Li C, Hoyt SJ, Dishuck PC, Porubsky D, Tsetsos F, Kwon JY, Zhu Q, Munson KM, Hasenfeld P, Harvey WT, Lewis AP, Kordosky J, Hoekzema K; Human Genome Structural Variation Consortium (HGSVC); O'Neill RJ, Korbel JO, Tyler-Smith C, Eichler EE, Shi X, Beck CR, Marschall T, Konkel MK, Lee C. Hallast P, et al. Among authors: audano pa. Nature. 2023 Sep;621(7978):355-364. doi: 10.1038/s41586-023-06425-6. Epub 2023 Aug 23. Nature. 2023. PMID: 37612510 Free PMC article.
32 results