Now showing items 1-11 of 11

    • Atypical Case Of Wolfram Syndrome Revealed Through Targeted Exome Sequencing In A Patient With Suspected Mitochondrial Disease 

      Lieber, Daniel Solomon; Vafai, Scott Bradley; Horton, Laura C; Slate, Nancy G; Liu, Shangtao; Borowsky, Mark L; Calvo, Sarah E; Schmahmann, Jeremy Dan; Mootha, Vamsi Krishna (BioMed Central, 2012)
      Background: Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases are ...
    • Comparative Genomic Characterization of Francisella tularensis Strains Belonging to Low and High Virulence Subspecies 

      Champion, Mia D.; Zeng, Qiandong; Nix, Eli B.; Nano, Francis E.; Keim, Paul; Kodira, Chinnappa D.; Koehrsen, Michael; Pearson, Matthew; Howarth, Clint; Larson, Lisa; White, Jared; Alvarado, Lucia; Forsman, Mats; Bearden, Scott W.; Sjöstedt, Anders; Titball, Richard; Michell, Stephen L.; Birren, Bruce; Borowsky, Mark L; Young, Sarah U.; Engels, Reinhard; Galagan, James E (Public Library of Science, 2009)
      Tularemia is a geographically widespread, severely debilitating, and occasionally lethal disease in humans. It is caused by infection by a gram-negative bacterium, Francisella tularensis. In order to better understand its ...
    • Complex Reorganization and Predominant Non-Homologous Repair Following Chromosomal Breakage in Karyotypically Balanced Germline Rearrangements and Transgenic Integration 

      Chiang, Colby; Jacobsen, Jessie C.; Ernst, Carl; Hanscom, Carrie; Heilbut, Adrian; Blumenthal, Ian; Mills, Ryan E.; Kirby, Andrew; Rudiger, Skye R.; McLaughlan, Clive J.; Bawden, C. Simon; Reid, Suzanne J.; Faull, Richard L. M.; Snell, Russell G.; Hall, Ira M.; Ohsumi, Toshiro K.; Shen, Yiping; Borowsky, Mark L; Daly, Mark Joseph; Lee, Charles; Morton, Cynthia Casson; MacDonald, Marcy Elizabeth; Gusella, James Francis; Talkowski, Michael Edward; Lindgren, Amelia M. (Nature Publishing Group, 2012)
      We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution by sequencing 141 breakpoints from cytogenetically-interpreted translocations and inversions. We confirm that the recently ...
    • Genomic Analysis Identifies Targets of Convergent Positive Selection in Drug Resistant Mycobacterium tuberculosis 

      Farhat, Maha R; Shapiro, B Jesse; Kieser, Karen J; Sultana, Razvan; Jacobson, Karen R; Victor, Thomas C; Warren, Robin M; Streicher, Elizabeth M; Calver, Alistair; Sloutsky, Alex; Kaur, Devinder; Posey, Jamie E; Plikaytis, Bonnie; Oggioni, Marco R; Gardy, Jennifer L; Johnston, James C; Rodrigues, Mabel; Tang, Patrick K C; Kato-Maeda, Midori; Borowsky, Mark L; Muddukrishna, Bhavana; Kreiswirth, Barry N; Kurepina, Natalia; Galagan, James; Gagneux, Sebastien; Birren, Bruce; Rubin, Eric J; Lander, Eric S; Sabeti, Pardis C; Murray, Megan (2013)
      Mycobacterium tuberculosis is successfully evolving antibiotic resistance, threatening attempts at tuberculosis epidemic control. Mechanisms of resistance, including the genetic changes favored by selection in resistant ...
    • Identifying candidate ncRNAs that direct changes in chromatin structure 

      Ray, Mridula Kumari; Wang, Yanqun; Borowsky, Mark L; Sadreyev, Ruslan; Kingston, Robert Edward (BioMed Central, 2013)
    • The Microglial Sensome Revealed by Direct RNA Sequencing 

      Hickman, Suzanne E.; Kingery, Nathan D.; Ohsumi, Toshiro; Borowsky, Mark; Wang, Li-chong; Means, Terry K.; Khoury, Joseph El (2013)
      Microglia, the principal neuroimmune sentinels of the brain, continuously sense changes in their environment and respond to invading pathogens, toxins and cellular debris. Microglia exhibit plasticity and can assume ...
    • MolBioLib: A C++11 Framework for Rapid Development and Deployment of Bioinformatics Tasks 

      Ohsumi, Toshiro K.; Borowsky, Mark L (Oxford University Press, 2012)
      Summary: We developed MolBioLib to address the need for adaptable next-generation sequencing analysis tools. The result is a compact, portable and extensively tested C++11 software framework and set of applications tailored ...
    • Multiplexed Illumina sequencing libraries from picogram quantities of DNA 

      Bowman, Sarah K; Simon, Matthew D; Deaton, Aimee M; Tolstorukov, Michael; Borowsky, Mark L; Kingston, Robert E (BioMed Central, 2013)
      Background: High throughput sequencing is frequently used to discover the location of regulatory interactions on chromatin. However, techniques that enrich DNA where regulatory activity takes place, such as chromatin ...
    • Short-Term Genome Evolution of Listeria Monocytogenes in a Non-Controlled Environment 

      Orsi, Renato H; Lauer, Peter; Nusbaum, Chad; Birren, Bruce W; Ivy, Reid A; Graves, Lewis M; Swaminathan, Bala; Wiedmann, Martin; Borowsky, Mark L; Young, Sarah K.; Galagan, James E; Sun, Qi (BioMed Central, 2008)
      Background: While increasing data on bacterial evolution in controlled environments are available, our understanding of bacterial genome evolution in natural environments is limited. We thus performed full genome analyses ...
    • Small RNA pathway genes identified by patterns of phylogenetic conservation and divergence 

      Tabach, Yuval; Billi, Allison C.; Hayes, Gabriel D.; Newman, Martin A.; Zuk, Or; Gabel, Harrison; Kamath, Ravi; Yacoby, Keren; Chapman, Brad; Garcia, Susana M.; Borowsky, Mark; Kim, John K.; Ruvkun, Gary (2013)
      Genetic and biochemical analyses of RNA interference (RNAi) and microRNA (miRNA) pathways have revealed proteins such as Argonaute/PIWI and Dicer that process and present small RNAs to their targets. Well validated small ...
    • Transposon activation mutagenesis as a screening tool for identifying resistance to cancer therapeutics 

      Chen, Li; Stuart, Lynda; Ohsumi, Toshiro K; Burgess, Shawn; Varshney, Gaurav K; Dastur, Anahita; Borowsky, Mark L; Benes, Cyril Henri; Lacy-Hulbert, Adam; Schmidt, Emmett V (BioMed Central, 2013)
      Background: The development of resistance to chemotherapies represents a significant barrier to successful cancer treatment. Resistance mechanisms are complex, can involve diverse and often unexpected cellular processes, ...