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Year Number of Results
2001 2
2002 1
2004 1
2005 2
2006 2
2007 1
2009 1
2010 7
2011 3
2012 1
2013 1
2014 3
2018 1
2019 1
2020 5
2021 14
2022 15
2023 19
2024 13
2025 9

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97 results

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Page 1
A draft human pangenome reference.
Liao WW, Asri M, Ebler J, Doerr D, Haukness M, Hickey G, Lu S, Lucas JK, Monlong J, Abel HJ, Buonaiuto S, Chang XH, Cheng H, Chu J, Colonna V, Eizenga JM, Feng X, Fischer C, Fulton RS, Garg S, Groza C, Guarracino A, Harvey WT, Heumos S, Howe K, Jain M, Lu TY, Markello C, Martin FJ, Mitchell MW, Munson KM, Mwaniki MN, Novak AM, Olsen HE, Pesout T, Porubsky D, Prins P, Sibbesen JA, Sirén J, Tomlinson C, Villani F, Vollger MR, Antonacci-Fulton LL, Baid G, Baker CA, Belyaeva A, Billis K, Carroll A, Chang PC, Cody S, Cook DE, Cook-Deegan RM, Cornejo OE, Diekhans M, Ebert P, Fairley S, Fedrigo O, Felsenfeld AL, Formenti G, Frankish A, Gao Y, Garrison NA, Giron CG, Green RE, Haggerty L, Hoekzema K, Hourlier T, Ji HP, Kenny EE, Koenig BA, Kolesnikov A, Korbel JO, Kordosky J, Koren S, Lee H, Lewis AP, Magalhães H, Marco-Sola S, Marijon P, McCartney A, McDaniel J, Mountcastle J, Nattestad M, Nurk S, Olson ND, Popejoy AB, Puiu D, Rautiainen M, Regier AA, Rhie A, Sacco S, Sanders AD, Schneider VA, Schultz BI, Shafin K, Smith MW, Sofia HJ, Abou Tayoun AN, Thibaud-Nissen F, Tricomi FF, Wagner J, Walenz B, Wood JMD, Zimin AV, Bourque G, Chaisson MJP, Flicek P, Phillippy AM, Zook JM, Eichl… See abstract for full author list ➔ Liao WW, et al. Among authors: fedrigo o. Nature. 2023 May;617(7960):312-324. doi: 10.1038/s41586-023-05896-x. Epub 2023 May 10. Nature. 2023. PMID: 37165242 Free PMC article.
Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.
Webster ALH, Sanders MA, Patel K, Dietrich R, Noonan RJ, Lach FP, White RR, Goldfarb A, Hadi K, Edwards MM, Donovan FX, Hoogenboezem RM, Jung M, Sridhar S, Wiley TF, Fedrigo O, Tian H, Rosiene J, Heineman T, Kennedy JA, Bean L, Rosti RO, Tryon R, Gonzalez AM, Rosenberg A, Luo JD, Carroll TS, Shroff S, Beaumont M, Velleuer E, Rastatter JC, Wells SI, Surrallés J, Bagby G, MacMillan ML, Wagner JE, Cancio M, Boulad F, Scognamiglio T, Vaughan R, Beaumont KG, Koren A, Imielinski M, Chandrasekharappa SC, Auerbach AD, Singh B, Kutler DI, Campbell PJ, Smogorzewska A. Webster ALH, et al. Among authors: fedrigo o. Nature. 2022 Dec;612(7940):495-502. doi: 10.1038/s41586-022-05253-4. Epub 2022 Nov 30. Nature. 2022. PMID: 36450981 Free PMC article.
Towards complete and error-free genome assemblies of all vertebrate species.
Rhie A, McCarthy SA, Fedrigo O, Damas J, Formenti G, Koren S, Uliano-Silva M, Chow W, Fungtammasan A, Kim J, Lee C, Ko BJ, Chaisson M, Gedman GL, Cantin LJ, Thibaud-Nissen F, Haggerty L, Bista I, Smith M, Haase B, Mountcastle J, Winkler S, Paez S, Howard J, Vernes SC, Lama TM, Grutzner F, Warren WC, Balakrishnan CN, Burt D, George JM, Biegler MT, Iorns D, Digby A, Eason D, Robertson B, Edwards T, Wilkinson M, Turner G, Meyer A, Kautt AF, Franchini P, Detrich HW 3rd, Svardal H, Wagner M, Naylor GJP, Pippel M, Malinsky M, Mooney M, Simbirsky M, Hannigan BT, Pesout T, Houck M, Misuraca A, Kingan SB, Hall R, Kronenberg Z, Sović I, Dunn C, Ning Z, Hastie A, Lee J, Selvaraj S, Green RE, Putnam NH, Gut I, Ghurye J, Garrison E, Sims Y, Collins J, Pelan S, Torrance J, Tracey A, Wood J, Dagnew RE, Guan D, London SE, Clayton DF, Mello CV, Friedrich SR, Lovell PV, Osipova E, Al-Ajli FO, Secomandi S, Kim H, Theofanopoulou C, Hiller M, Zhou Y, Harris RS, Makova KD, Medvedev P, Hoffman J, Masterson P, Clark K, Martin F, Howe K, Flicek P, Walenz BP, Kwak W, Clawson H, Diekhans M, Nassar L, Paten B, Kraus RHS, Crawford AJ, Gilbert MTP, Zhang G, Venkatesh B, Murphy RW, Koepfli KP, Shapiro B,… See abstract for full author list ➔ Rhie A, et al. Among authors: fedrigo o. Nature. 2021 Apr;592(7856):737-746. doi: 10.1038/s41586-021-03451-0. Epub 2021 Apr 28. Nature. 2021. PMID: 33911273 Free PMC article.
Pangenome graph construction from genome alignments with Minigraph-Cactus.
Hickey G, Monlong J, Ebler J, Novak AM, Eizenga JM, Gao Y; Human Pangenome Reference Consortium; Marschall T, Li H, Paten B. Hickey G, et al. Nat Biotechnol. 2024 Apr;42(4):663-673. doi: 10.1038/s41587-023-01793-w. Epub 2023 May 10. Nat Biotechnol. 2024. PMID: 37165083 Free PMC article.
Recombination between heterologous human acrocentric chromosomes.
Guarracino A, Buonaiuto S, de Lima LG, Potapova T, Rhie A, Koren S, Rubinstein B, Fischer C; Human Pangenome Reference Consortium; Gerton JL, Phillippy AM, Colonna V, Garrison E. Guarracino A, et al. Nature. 2023 May;617(7960):335-343. doi: 10.1038/s41586-023-05976-y. Epub 2023 May 10. Nature. 2023. PMID: 37165241 Free PMC article.
Single-cell long-read sequencing-based mapping reveals specialized splicing patterns in developing and adult mouse and human brain.
Joglekar A, Hu W, Zhang B, Narykov O, Diekhans M, Marrocco J, Balacco J, Ndhlovu LC, Milner TA, Fedrigo O, Jarvis ED, Sheynkman G, Korkin D, Ross ME, Tilgner HU. Joglekar A, et al. Among authors: fedrigo o. Nat Neurosci. 2024 Jun;27(6):1051-1063. doi: 10.1038/s41593-024-01616-4. Epub 2024 Apr 9. Nat Neurosci. 2024. PMID: 38594596 Free PMC article.
How genomics can help biodiversity conservation.
Theissinger K, Fernandes C, Formenti G, Bista I, Berg PR, Bleidorn C, Bombarely A, Crottini A, Gallo GR, Godoy JA, Jentoft S, Malukiewicz J, Mouton A, Oomen RA, Paez S, Palsbøll PJ, Pampoulie C, Ruiz-López MJ, Secomandi S, Svardal H, Theofanopoulou C, de Vries J, Waldvogel AM, Zhang G, Jarvis ED, Bálint M, Ciofi C, Waterhouse RM, Mazzoni CJ, Höglund J; European Reference Genome Atlas Consortium. Theissinger K, et al. Trends Genet. 2023 Jul;39(7):545-559. doi: 10.1016/j.tig.2023.01.005. Epub 2023 Feb 16. Trends Genet. 2023. PMID: 36801111 Free article. Review.
Reference genomes for conservation.
Paez S, Kraus RHS, Shapiro B, Gilbert MTP, Jarvis ED; Vertebrate Genomes Project Conservation Group; Al-Ajli FO, Ceballos G, Crawford AJ, Fedrigo O, Johnson RN, Johnson WE, Marques-Bonet T, Morin PA, Mueller RC, Ryder OA, Teeling EC, Venkatesh B. Paez S, et al. Among authors: fedrigo o. Science. 2022 Jul 22;377(6604):364-366. doi: 10.1126/science.abm8127. Epub 2022 Jul 21. Science. 2022. PMID: 35862547
Fourth Report on Chicken Genes and Chromosomes 2022.
Smith J, Alfieri JM, Anthony N, Arensburger P, Athrey GN, Balacco J, Balic A, Bardou P, Barela P, Bigot Y, Blackmon H, Borodin PM, Carroll R, Casono MC, Charles M, Cheng H, Chiodi M, Cigan L, Coghill LM, Crooijmans R, Das N, Davey S, Davidian A, Degalez F, Dekkers JM, Derks M, Diack AB, Djikeng A, Drechsler Y, Dyomin A, Fedrigo O, Fiddaman SR, Formenti G, Frantz LAF, Fulton JE, Gaginskaya E, Galkina S, Gallardo RA, Geibel J, Gheyas AA, Godinez CJP, Goodell A, Graves JAM, Griffin DK, Haase B, Han JL, Hanotte O, Henderson LJ, Hou ZC, Howe K, Huynh L, Ilatsia E, Jarvis ED, Johnson SM, Kaufman J, Kelly T, Kemp S, Kern C, Keroack JH, Klopp C, Lagarrigue S, Lamont SJ, Lange M, Lanke A, Larkin DM, Larson G, Layos JKN, Lebrasseur O, Malinovskaya LP, Martin RJ, Martin Cerezo ML, Mason AS, McCarthy FM, McGrew MJ, Mountcastle J, Muhonja CK, Muir W, Muret K, Murphy TD, Ng'ang'a I, Nishibori M, O'Connor RE, Ogugo M, Okimoto R, Ouko O, Patel HR, Perini F, Pigozzi MI, Potter KC, Price PD, Reimer C, Rice ES, Rocos N, Rogers TF, Saelao P, Schauer J, Schnabel RD, Schneider VA, Simianer H, Smith A, Stevens MP, Stiers K, Tiambo CK, Tixier-Boichard M, Torgasheva AA, Tracey A, Tregaskes CA, Verv… See abstract for full author list ➔ Smith J, et al. Among authors: fedrigo o. Cytogenet Genome Res. 2022;162(8-9):405-528. doi: 10.1159/000529376. Epub 2023 Jan 30. Cytogenet Genome Res. 2022. PMID: 36716736 Free PMC article. Review. No abstract available.
97 results