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Page 1
GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Rehm HL, Page AJH, Smith L, Adams JB, Alterovitz G, Babb LJ, Barkley MP, Baudis M, Beauvais MJS, Beck T, Beckmann JS, Beltran S, Bernick D, Bernier A, Bonfield JK, Boughtwood TF, Bourque G, Bowers SR, Brookes AJ, Brudno M, Brush MH, Bujold D, Burdett T, Buske OJ, Cabili MN, Cameron DL, Carroll RJ, Casas-Silva E, Chakravarty D, Chaudhari BP, Chen SH, Cherry JM, Chung J, Cline M, Clissold HL, Cook-Deegan RM, Courtot M, Cunningham F, Cupak M, Davies RM, Denisko D, Doerr MJ, Dolman LI, Dove ES, Dursi LJ, Dyke SOM, Eddy JA, Eilbeck K, Ellrott KP, Fairley S, Fakhro KA, Firth HV, Fitzsimons MS, Fiume M, Flicek P, Fore IM, Freeberg MA, Freimuth RR, Fromont LA, Fuerth J, Gaff CL, Gan W, Ghanaim EM, Glazer D, Green RC, Griffith M, Griffith OL, Grossman RL, Groza T, Auvil JMG, Guigó R, Gupta D, Haendel MA, Hamosh A, Hansen DP, Hart RK, Hartley DM, Haussler D, Hendricks-Sturrup RM, Ho CWL, Hobb AE, Hoffman MM, Hofmann OM, Holub P, Hsu JS, Hubaux JP, Hunt SE, Husami A, Jacobsen JO, Jamuar SS, Janes EL, Jeanson F, Jené A, Johns AL, Joly Y, Jones SJM, Kanitz A, Kato K, Keane TM, Kekesi-Lafrance K, Kelleher J, Kerry G, Khor SS, Knoppers BM, Konopko MA, Kosaki K, Kuba M, Lawson J, Leinonen … See abstract for full author list ➔ Rehm HL, et al. Among authors: brudno m. Cell Genom. 2021 Nov 10;1(2):100029. doi: 10.1016/j.xgen.2021.100029. Cell Genom. 2021. PMID: 35072136 Free PMC article.
SHRiMP: accurate mapping of short color-space reads.
Rumble SM, Lacroute P, Dalca AV, Fiume M, Sidow A, Brudno M. Rumble SM, et al. Among authors: brudno m. PLoS Comput Biol. 2009 May;5(5):e1000386. doi: 10.1371/journal.pcbi.1000386. Epub 2009 May 22. PLoS Comput Biol. 2009. PMID: 19461883 Free PMC article.
Savant: genome browser for high-throughput sequencing data.
Fiume M, Williams V, Brook A, Brudno M. Fiume M, et al. Among authors: brudno m. Bioinformatics. 2010 Aug 15;26(16):1938-44. doi: 10.1093/bioinformatics/btq332. Epub 2010 Jun 20. Bioinformatics. 2010. PMID: 20562449 Free PMC article.
Detecting copy number variation with mated short reads.
Medvedev P, Fiume M, Dzamba M, Smith T, Brudno M. Medvedev P, et al. Among authors: brudno m. Genome Res. 2010 Nov;20(11):1613-22. doi: 10.1101/gr.106344.110. Epub 2010 Aug 30. Genome Res. 2010. PMID: 20805290 Free PMC article.
Savant Genome Browser 2: visualization and analysis for population-scale genomics.
Fiume M, Smith EJ, Brook A, Strbenac D, Turner B, Mezlini AM, Robinson MD, Wodak SJ, Brudno M. Fiume M, et al. Among authors: brudno m. Nucleic Acids Res. 2012 Jul;40(Web Server issue):W615-21. doi: 10.1093/nar/gks427. Epub 2012 May 25. Nucleic Acids Res. 2012. PMID: 22638571 Free PMC article.
Phenotyping: targeting genotype's rich cousin for diagnosis.
Baynam G, Walters M, Claes P, Kung S, LeSouef P, Dawkins H, Bellgard M, Girdea M, Brudno M, Robinson P, Zankl A, Groza T, Gillett D, Goldblatt J. Baynam G, et al. Among authors: brudno m. J Paediatr Child Health. 2015 Apr;51(4):381-6. doi: 10.1111/jpc.12705. Epub 2014 Aug 11. J Paediatr Child Health. 2015. PMID: 25109851 Review.
The genomic birthday paradox: how much is enough?
Krawitz P, Buske O, Zhu N, Brudno M, Robinson PN. Krawitz P, et al. Among authors: brudno m. Hum Mutat. 2015 Oct;36(10):989-97. doi: 10.1002/humu.22848. Epub 2015 Aug 20. Hum Mutat. 2015. PMID: 26239817
202 results