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729 results

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Page 1
Transcriptome variation in human tissues revealed by long-read sequencing.
Glinos DA, Garborcauskas G, Hoffman P, Ehsan N, Jiang L, Gokden A, Dai X, Aguet F, Brown KL, Garimella K, Bowers T, Costello M, Ardlie K, Jian R, Tucker NR, Ellinor PT, Harrington ED, Tang H, Snyder M, Juul S, Mohammadi P, MacArthur DG, Lappalainen T, Cummings BB. Glinos DA, et al. Among authors: costello m. Nature. 2022 Aug;608(7922):353-359. doi: 10.1038/s41586-022-05035-y. Epub 2022 Aug 3. Nature. 2022. PMID: 35922509 Free PMC article.
Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.
Wahlster L, Verboon JM, Ludwig LS, Black SC, Luo W, Garg K, Voit RA, Collins RL, Garimella K, Costello M, Chao KR, Goodrich JK, DiTroia SP, O'Donnell-Luria A, Talkowski ME, Michelson AD, Cantor AB, Sankaran VG. Wahlster L, et al. Among authors: costello m. J Exp Med. 2021 Jun 7;218(6):e20210444. doi: 10.1084/jem.20210444. J Exp Med. 2021. PMID: 33857290 Free PMC article.
High-throughput RNA isoform sequencing using programmed cDNA concatenation.
Al'Khafaji AM, Smith JT, Garimella KV, Babadi M, Popic V, Sade-Feldman M, Gatzen M, Sarkizova S, Schwartz MA, Blaum EM, Day A, Costello M, Bowers T, Gabriel S, Banks E, Philippakis AA, Boland GM, Blainey PC, Hacohen N. Al'Khafaji AM, et al. Among authors: costello m. Nat Biotechnol. 2024 Apr;42(4):582-586. doi: 10.1038/s41587-023-01815-7. Epub 2023 Jun 8. Nat Biotechnol. 2024. PMID: 37291427
Evolution of genes and genomes on the Drosophila phylogeny.
Drosophila 12 Genomes Consortium; Clark AG, Eisen MB, Smith DR, Bergman CM, Oliver B, Markow TA, Kaufman TC, Kellis M, Gelbart W, Iyer VN, Pollard DA, Sackton TB, Larracuente AM, Singh ND, Abad JP, Abt DN, Adryan B, Aguade M, Akashi H, Anderson WW, Aquadro CF, Ardell DH, Arguello R, Artieri CG, Barbash DA, Barker D, Barsanti P, Batterham P, Batzoglou S, Begun D, Bhutkar A, Blanco E, Bosak SA, Bradley RK, Brand AD, Brent MR, Brooks AN, Brown RH, Butlin RK, Caggese C, Calvi BR, Bernardo de Carvalho A, Caspi A, Castrezana S, Celniker SE, Chang JL, Chapple C, Chatterji S, Chinwalla A, Civetta A, Clifton SW, Comeron JM, Costello JC, Coyne JA, Daub J, David RG, Delcher AL, Delehaunty K, Do CB, Ebling H, Edwards K, Eickbush T, Evans JD, Filipski A, Findeiss S, Freyhult E, Fulton L, Fulton R, Garcia AC, Gardiner A, Garfield DA, Garvin BE, Gibson G, Gilbert D, Gnerre S, Godfrey J, Good R, Gotea V, Gravely B, Greenberg AJ, Griffiths-Jones S, Gross S, Guigo R, Gustafson EA, Haerty W, Hahn MW, Halligan DL, Halpern AL, Halter GM, Han MV, Heger A, Hillier L, Hinrichs AS, Holmes I, Hoskins RA, Hubisz MJ, Hultmark D, Huntley MA, Jaffe DB, Jagadeeshan S, Jeck WR, Johnson J, Jones CD, Jordan… See abstract for full author list ➔ Drosophila 12 Genomes Consortium, et al. Among authors: costello jc, costello m. Nature. 2007 Nov 8;450(7167):203-18. doi: 10.1038/nature06341. Nature. 2007. PMID: 17994087
High-quality draft assemblies of mammalian genomes from massively parallel sequence data.
Gnerre S, Maccallum I, Przybylski D, Ribeiro FJ, Burton JN, Walker BJ, Sharpe T, Hall G, Shea TP, Sykes S, Berlin AM, Aird D, Costello M, Daza R, Williams L, Nicol R, Gnirke A, Nusbaum C, Lander ES, Jaffe DB. Gnerre S, et al. Among authors: costello m. Proc Natl Acad Sci U S A. 2011 Jan 25;108(4):1513-8. doi: 10.1073/pnas.1017351108. Epub 2010 Dec 27. Proc Natl Acad Sci U S A. 2011. PMID: 21187386 Free PMC article.
Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation.
Costello M, Pugh TJ, Fennell TJ, Stewart C, Lichtenstein L, Meldrim JC, Fostel JL, Friedrich DC, Perrin D, Dionne D, Kim S, Gabriel SB, Lander ES, Fisher S, Getz G. Costello M, et al. Nucleic Acids Res. 2013 Apr 1;41(6):e67. doi: 10.1093/nar/gks1443. Epub 2013 Jan 8. Nucleic Acids Res. 2013. PMID: 23303777 Free PMC article.
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.
Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Giachino D, Perrin D, Walsh C, Cipicchio M, Costello M, Stortchevoi A, An JY, Currall BB, Seabra CM, Ragavendran A, Margolin L, Martinez-Agosto JA, Lucente D, Levy B, Sanders SJ, Wapner RJ, Quintero-Rivera F, Kloosterman W, Talkowski ME. Collins RL, et al. Among authors: costello m. Genome Biol. 2017 Mar 6;18(1):36. doi: 10.1186/s13059-017-1158-6. Genome Biol. 2017. PMID: 28260531 Free PMC article.
Targeted exon sequencing by in-solution hybrid selection.
Blumenstiel B, Cibulskis K, Fisher S, DeFelice M, Barry A, Fennell T, Abreu J, Minie B, Costello M, Young G, Maquire J, Kernytsky A, Melnikov A, Rogov P, Gnirke A, Gabriel S. Blumenstiel B, et al. Among authors: costello m. Curr Protoc Hum Genet. 2010 Jul;Chapter 18:Unit 18.4. doi: 10.1002/0471142905.hg1804s66. Curr Protoc Hum Genet. 2010. PMID: 20582916
Characterizing and measuring bias in sequence data.
Ross MG, Russ C, Costello M, Hollinger A, Lennon NJ, Hegarty R, Nusbaum C, Jaffe DB. Ross MG, et al. Among authors: costello m. Genome Biol. 2013 May 29;14(5):R51. doi: 10.1186/gb-2013-14-5-r51. Genome Biol. 2013. PMID: 23718773 Free PMC article.
729 results