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Page 1
Mapping MAVE data for use in human genomics applications.
Arbesfeld JA, Da EY, Stevenson JS, Kuzma K, Paul A, Farris T, Capodanno BJ, Grindstaff SB, Riehle K, Saraiva-Agostinho N, Safer JF, Milosavljevic A, Foreman J, Firth HV, Hunt SE, Iqbal S, Cline MS, Rubin AF, Wagner AH. Arbesfeld JA, et al. Among authors: hunt se. bioRxiv [Preprint]. 2024 Jun 30:2023.06.20.545702. doi: 10.1101/2023.06.20.545702. bioRxiv. 2024. PMID: 38979347 Free PMC article. Preprint.
Curating genomic disease-gene relationships with Gene2Phenotype (G2P).
Yates TM, Ansari M, Thompson L, Hunt SE, Uhalte EC, Hobson RJ, Marsh JA, Wright CF, Firth HV. Yates TM, et al. Among authors: hunt se. Genome Med. 2024 Nov 6;16(1):127. doi: 10.1186/s13073-024-01398-1. Genome Med. 2024. PMID: 39506859 Free PMC article.
Ensembl 2025.
Dyer SC, Austine-Orimoloye O, Azov AG, Barba M, Barnes I, Barrera-Enriquez VP, Becker A, Bennett R, Beracochea M, Berry A, Bhai J, Bhurji SK, Boddu S, Branco Lins PR, Brooks L, Ramaraju SB, Campbell LI, Martinez MC, Charkhchi M, Cortes LA, Davidson C, Denni S, Dodiya K, Donaldson S, El Houdaigui B, El Naboulsi T, Falola O, Fatima R, Genez T, Martinez JG, Gurbich T, Hardy M, Hollis Z, Hunt T, Kay M, Kaykala V, Lemos D, Lodha D, Mathlouthi N, Merino GA, Merritt R, Mirabueno LP, Mushtaq A, Hossain SN, Pérez-Silva JG, Perry M, Piližota I, Poppleton D, Prosovetskaia I, Raj S, Salam AIA, Saraf S, Saraiva-Agostinho N, Sinha S, Sipos B, Sitnik V, Steed E, Suner MM, Surapaneni L, Sutinen K, Tricomi FF, Tsang I, Urbina-Gómez D, Veidenberg A, Walsh TA, Willhoft NL, Allen J, Alvarez-Jarreta J, Chakiachvili M, Cheema J, da Rocha JB, De Silva NH, Giorgetti S, Haggerty L, Ilsley GR, Keatley J, Loveland JE, Moore B, Mudge JM, Naamati G, Tate J, Trevanion SJ, Winterbottom A, Flint B, Frankish A, Hunt SE, Finn RD, Freeberg MA, Harrison PW, Martin FJ, Yates AD. Dyer SC, et al. Among authors: hunt se. Nucleic Acids Res. 2024 Dec 4:gkae1071. doi: 10.1093/nar/gkae1071. Online ahead of print. Nucleic Acids Res. 2024. PMID: 39656687
EMBL's European Bioinformatics Institute (EMBL-EBI) in 2024.
Thakur M, Brooksbank C, Finn RD, Firth HV, Foreman J, Freeberg M, Gurwitz KT, Harrison M, Hulcoop D, Hunt SE, R Leach A, Levchenko M, Marques D, McDonagh EM, Mithani A, Parkinson H, Perez-Riverol Y, Perova Z, Sarkans U, Tirunagari S, Tzampatzopoulou E, Venkatesan A, Vizcaino JA, Wingfield B, Zdrazil B, McEntyre J. Thakur M, et al. Among authors: hunt se. Nucleic Acids Res. 2024 Nov 28:gkae1089. doi: 10.1093/nar/gkae1089. Online ahead of print. Nucleic Acids Res. 2024. PMID: 39607697
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: hunt se. bioRxiv [Preprint]. 2024 Sep 25:2024.09.24.614721. doi: 10.1101/2024.09.24.614721. bioRxiv. 2024. PMID: 39372794 Free PMC article. Preprint.
Ensembl 2024.
Harrison PW, Amode MR, Austine-Orimoloye O, Azov AG, Barba M, Barnes I, Becker A, Bennett R, Berry A, Bhai J, Bhurji SK, Boddu S, Branco Lins PR, Brooks L, Ramaraju SB, Campbell LI, Martinez MC, Charkhchi M, Chougule K, Cockburn A, Davidson C, De Silva NH, Dodiya K, Donaldson S, El Houdaigui B, Naboulsi TE, Fatima R, Giron CG, Genez T, Grigoriadis D, Ghattaoraya GS, Martinez JG, Gurbich TA, Hardy M, Hollis Z, Hourlier T, Hunt T, Kay M, Kaykala V, Le T, Lemos D, Lodha D, Marques-Coelho D, Maslen G, Merino GA, Mirabueno LP, Mushtaq A, Hossain SN, Ogeh DN, Sakthivel MP, Parker A, Perry M, Piližota I, Poppleton D, Prosovetskaia I, Raj S, Pérez-Silva JG, Salam AIA, Saraf S, Saraiva-Agostinho N, Sheppard D, Sinha S, Sipos B, Sitnik V, Stark W, Steed E, Suner MM, Surapaneni L, Sutinen K, Tricomi FF, Urbina-Gómez D, Veidenberg A, Walsh TA, Ware D, Wass E, Willhoft NL, Allen J, Alvarez-Jarreta J, Chakiachvili M, Flint B, Giorgetti S, Haggerty L, Ilsley GR, Keatley J, Loveland JE, Moore B, Mudge JM, Naamati G, Tate J, Trevanion SJ, Winterbottom A, Frankish A, Hunt SE, Cunningham F, Dyer S, Finn RD, Martin FJ, Yates AD. Harrison PW, et al. Among authors: hunt se. Nucleic Acids Res. 2024 Jan 5;52(D1):D891-D899. doi: 10.1093/nar/gkad1049. Nucleic Acids Res. 2024. PMID: 37953337 Free PMC article.
The complete sequence of a human Y chromosome.
Rhie A, Nurk S, Cechova M, Hoyt SJ, Taylor DJ, Altemose N, Hook PW, Koren S, Rautiainen M, Alexandrov IA, Allen J, Asri M, Bzikadze AV, Chen NC, Chin CS, Diekhans M, Flicek P, Formenti G, Fungtammasan A, Garcia Giron C, Garrison E, Gershman A, Gerton JL, Grady PGS, Guarracino A, Haggerty L, Halabian R, Hansen NF, Harris R, Hartley GA, Harvey WT, Haukness M, Heinz J, Hourlier T, Hubley RM, Hunt SE, Hwang S, Jain M, Kesharwani RK, Lewis AP, Li H, Logsdon GA, Lucas JK, Makalowski W, Markovic C, Martin FJ, Mc Cartney AM, McCoy RC, McDaniel J, McNulty BM, Medvedev P, Mikheenko A, Munson KM, Murphy TD, Olsen HE, Olson ND, Paulin LF, Porubsky D, Potapova T, Ryabov F, Salzberg SL, Sauria MEG, Sedlazeck FJ, Shafin K, Shepelev VA, Shumate A, Storer JM, Surapaneni L, Taravella Oill AM, Thibaud-Nissen F, Timp W, Tomaszkiewicz M, Vollger MR, Walenz BP, Watwood AC, Weissensteiner MH, Wenger AM, Wilson MA, Zarate S, Zhu Y, Zook JM, Eichler EE, O'Neill RJ, Schatz MC, Miga KH, Makova KD, Phillippy AM. Rhie A, et al. Among authors: hunt se. Nature. 2023 Sep;621(7978):344-354. doi: 10.1038/s41586-023-06457-y. Epub 2023 Aug 23. Nature. 2023. PMID: 37612512 Free PMC article.
177 results