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Noninvasive Prenatal Detection of Trisomy 21 by Targeted Semiconductor Sequencing: A Technical Feasibility Study.
Xi Y, Arbabi A, McNaughton AJM, Hamilton A, Hull D, Perras H, Chiu T, Morrison S, Goldsmith C, Creede E, Anger GJ, Honeywell C, Cloutier M, Macchio N, Kiss C, Liu X, Crocker S, Davies GA, Brudno M, Armour CM. Xi Y, et al. Among authors: brudno m. Fetal Diagn Ther. 2017;42(4):302-310. doi: 10.1159/000460248. Epub 2017 May 17. Fetal Diagn Ther. 2017. PMID: 28511174 Clinical Trial.
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.
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 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.
202 results