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Mapping copy number variation by population-scale genome sequencing.
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stütz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO; 1000 Genomes Project. Mills RE, et al. Nature. 2011 Feb 3;470(7332):59-65. doi: 10.1038/nature09708. Nature. 2011. PMID: 21293372 Free PMC article.
SpeedSeq: ultra-fast personal genome analysis and interpretation.
Chiang C, Layer RM, Faust GG, Lindberg MR, Rose DB, Garrison EP, Marth GT, Quinlan AR, Hall IM. Chiang C, et al. Among authors: quinlan ar. Nat Methods. 2015 Oct;12(10):966-8. doi: 10.1038/nmeth.3505. Epub 2015 Aug 10. Nat Methods. 2015. PMID: 26258291 Free PMC article.
Vcfanno: fast, flexible annotation of genetic variants.
Pedersen BS, Layer RM, Quinlan AR. Pedersen BS, et al. Among authors: quinlan ar. Genome Biol. 2016 Jun 1;17(1):118. doi: 10.1186/s13059-016-0973-5. Genome Biol. 2016. PMID: 27250555 Free PMC article.
cyvcf2: fast, flexible variant analysis with Python.
Pedersen BS, Quinlan AR. Pedersen BS, et al. Among authors: quinlan ar. Bioinformatics. 2017 Jun 15;33(12):1867-1869. doi: 10.1093/bioinformatics/btx057. Bioinformatics. 2017. PMID: 28165109 Free PMC article.
Combating subclonal evolution of resistant cancer phenotypes.
Brady SW, McQuerry JA, Qiao Y, Piccolo SR, Shrestha G, Jenkins DF, Layer RM, Pedersen BS, Miller RH, Esch A, Selitsky SR, Parker JS, Anderson LA, Dalley BK, Factor RE, Reddy CB, Boltax JP, Li DY, Moos PJ, Gray JW, Heiser LM, Buys SS, Cohen AL, Johnson WE, Quinlan AR, Marth G, Werner TL, Bild AH. Brady SW, et al. Among authors: quinlan ar. Nat Commun. 2017 Nov 1;8(1):1231. doi: 10.1038/s41467-017-01174-3. Nat Commun. 2017. PMID: 29093439 Free PMC article.
GIGGLE: a search engine for large-scale integrated genome analysis.
Layer RM, Pedersen BS, DiSera T, Marth GT, Gertz J, Quinlan AR. Layer RM, et al. Among authors: quinlan ar. Nat Methods. 2018 Feb;15(2):123-126. doi: 10.1038/nmeth.4556. Epub 2018 Jan 8. Nat Methods. 2018. PMID: 29309061 Free PMC article.
Publisher Correction: Combating subclonal evolution of resistant cancer phenotypes.
Brady SW, McQuerry JA, Qiao Y, Piccolo SR, Shrestha G, Jenkins DF, Layer RM, Pedersen BS, Miller RH, Esch A, Selitsky SR, Parker JS, Anderson LA, Dalley BK, Factor RE, Reddy CB, Boltax JP, Li DY, Moos PJ, Gray JW, Heiser LM, Buys SS, Cohen AL, Johnson WE, Quinlan AR, Marth G, Werner TL, Bild AH. Brady SW, et al. Among authors: quinlan ar. Nat Commun. 2018 Feb 5;9(1):572. doi: 10.1038/s41467-017-02383-6. Nat Commun. 2018. PMID: 29402882 Free PMC article.
121 results