Here you’ll find my publications. Please feel free to contact me if you have questions about any of them.
(Reverse chronological order):
Karczewski KJ. “The future of genomic medicine is here.” Genome Biol. 2013, 14:304. doi:10.1186/ gb-2013-14-3-304
Montgomery SB, Goode D, Kvikstad E, Albers CA, Zhang Z, Mu XJ, Ananda G, Howie B, The 1000 Genomes Pilot Project Consortium, MacArthur DG, Karczewski KJ, Smith KS, Anaya V, Richardson R, Sidow A, Duret A, Gerstein M, Makova K, Marchini J, McVean G, Lunter G. “The origin, evolutionary dynamics and functional impact of short insertion-deletion variants identified in 179 human genomes.” Genome Res. 2013 Mar 11. doi: 10.1101/gr.148718.112
Karczewski KJ, Daneshjou R, Altman RB. “Chapter 7: Pharmacogenomics.” PLoS Comput Biol. 2012 Dec 27; 8(12): e1002817. doi:10.1371/journal.pcbi.1002817
O’Huallachain M, Karczewski KJ, Weissman S, Urban AE, Snyder M. “Extensive Genetic Variation in Somatic Human Tissues.” Proc Natl Acad Sci U S A. 2012 Oct 30; 109(44): 18018-18023. doi: 10.1073/pnas. 1213736109. Epub 2012 Oct 5
The ENCODE Project Consortium. “An integrated encyclopedia of DNA elements in the human genome.” Nature. 2012 Sep 6;489(7414):57-74. doi: 10.1038/nature11247.
Boyle AP, Hong EL, Hariharan M, Cheng Y, Schaub MA, Kasowski M, Karczewski KJ, Park J, Hitz BC, Weng S, Cherry JM, Snyder M. “Annotation of functional variation in personal genomes using RegulomeDB.“ Genome Res. 2012 Sep;22(9):1790-7.
Adamcik J, Jeon J, Karczewski KJ, Metzler R, Dietler G. “Quantifying supercoiling-induced denaturation bubbles in DNA.” Soft Matter. Epub 2012 Jul 09. DOI: 10.1039/c2sm26089a
Chen R*, Mias G*, Li-Pook-Than J*, Jiang L*, Lam HYK, Chen R, Miriami E, Karczewski KJ, Hariharan M, Dewey FE, Cheng Y, Clark MJ, Im H, Habegger L, Balasubramanian S, O’Huallachain M, Dudley JT, Hillenmeyer S, Haraksingh R, Sharon D, Euskirchen G, Lacroute P, Bettinger K, Boyle AP, Kasowski M, Grubert F, Seki S, Garcia M, Whirl-Carrillo M, Gallardo M, Blasco MA, Greenberg PL, Snyder P, Klein TE, AltmanRB, Butte AJ, Ashley EA, Nadeau KC, Gerstein M, Tang H and Snyder M. “Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes.” Cell. 2012 Mar 16;148(6):1293-307.
Karczewski KJ*, Tirrell RP*, Tatonetti NP, Dudley JT, Cordero P, Salari K, Altman RB, Snyder M, and Kim SK. “Interpretome: A Freely Available, Modular, and Secure Personal Genome Interpretation Engine.” Pac Symp Biocomput. Epub 2011 Oct 25. 17:339-350(2012).
Clark MJ, Chen R, Lam HY, Karczewski KJ, Chen R, Euskirchen G, Butte AJ, Snyder M. “Performance comparison of exome DNA sequencing technologies.” Nat Biotechnol. 2011 Sep 25;29(10):908-14. doi: 10.1038/nbt.1975.
Dewey FE, Chen R, Cordero SP, Ormond KE, Caleshu C, Karczewski KJ, Whirl-Carrillo M, Wheeler MT, Dudley JT, Byrnes JK, Cornejo OE, Knowles JW, Woon M, Sangkuhl K, Gong L, Thorn CF, Hebert JM, Capriotti E, David SP, Pavlovic A, West A, Thakuria JV, Ball MP, Zaranek AW, Rehm HL, Church GM, West JS, Bustamante CD, Snyder M, Altman RB, Klein TE, Butte AJ, Ashley EA. “Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.” PLoS Genet. 2011 Sep;7(9):e1002280. Epub 2011 Sep 15.
Karczewski KJ, Tatonetti NP, Landt SG, Slifer T, Yang X, Altman RB, Snyder M. “Cooperative transcription factor associations discovered using regulatory variation..” PNAS. Epub 2011 July 26.
Zheng W, Gianoulis TA, Karczewski KJ, Zhao H, Snyder M. “Regulatory Variation Within and Between Species.” Annual Review of Genomics and Human Genetics. Epub 2011 July 1.
Fernald GH, Capriotti E, Daneshjou R, Karczewski KJ, Altman RB. “Bioinformatics Challenges for Personalized Medicine.” Bioinformatics. 2011 Jul 1;27(13):1741-8. Epub 2011 May 19.
Kasowski M, Grubert F, Heffelfinger C, Hariharan M, Asabere A, Waszak SM, Habegger L, Rozowsky J, Shi M, Urban AE, Hong MY, Karczewski KJ, Huber W, Weissman SM, Gerstein MB, Korbel JO, Snyder M. “Variation in transcription factor binding among humans.” Science. 2010 Apr 9;328(5975):232-5. Epub 2010 Mar 18.
