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  1. .... The theory and practice of sequence assembly. Annu Rev Genomics Hum Genet 16: 153–172. doi:10.1146/annurev-genom-090314-050032 ↵Simpson JT, Wong K, Jackman SD, Schein JE, Jones SJ, Birol I. 2009. ABySS: a parallel assembler for short read sequence data. Genome Res 19: 1117–1123. doi:10.1101/gr.089532...
  2. ...to sequence s in the thousands and even millions, the development of efficient, scalable and accurate bioinformatics tools for producing high-quality reference draft s is timely. With ABySS 1.0, we originally showed that assembling the human using short 50-bp sequencing reads was possible by aggregating...
  3. ...to DNA fragment assembly. Proc Natl Acad Sci 98: 9748–9753. Shendure J, Mitra RD, Varma C, Church GM. 2004. Advanced sequencing technologies: Methods and goals. Nat Rev Genet 5: 335–344. Simpson JT,Wong K, Jackman SD, Schein JE, Jones SJ, Birol I. 2009. ABySS: A parallel assembler for short read sequence...
  4. ...- data sets into memory (ABySS) (Simpson et al. 2009), Chapman et al. (2011) (SOAPdenovo) (Li et al. 2010a), Cortex (in prep.). Now, as improvements in sequencer technology are extending the length of ‘‘short reads,’’ the overlap graph approach is being revisited, albeit with optimized programming...
  5. ...and regarded every mismatch as a sequencing error. D2 (D. mel.) Another real data set we used is that of D. melanogaster inbred line RAL-399, sequenced and assembled by the Drosophila Population Genomics Project (DPGP, http://www. dpgp.org/). The short-reads were downloaded from the NCBI Sequence Read Archive...
  6. ...such variations. The first paradigm is to perform de novo assembly of short reads and detect indels by comparing contigs to a reference sequence. The second paradigm is to map each fragment directly and independently of other fragments to the reference sequence using a read mapper (e.g., Li et al. 2008; Langmead...
  7. ...Detecting copy number variation with mated short reads Paul Medvedev 1 , Marc Fiume 1 , Misko Dzamba 1 , Tim Smith 1 and Michael Brudno 1 , 2 , 3 1 Department of Computer Science, University of Toronto, Toronto, Ontario M5R...
  8. ...SJ, Birol I. 2009. ABySS: A parallel assembler for short read sequence data. Genome Res 19: 1117– 1123. Sommer DD, Delcher AL, Salzberg SL, Pop M. 2007. Minimus: A fast, lightweight assembler. BMC Bioinformatics 8: 64. doi: 10.1186/ 1471-2105-8-64. Stark A, Lin MF, Kheradpour P, Pedersen JS, Parts L...
  9. ...Packer (Liu et al. 2016a), Bridger (Chang et al. 2015), Trinity (MacManes and Eisen 2013), ABySS (Simpson et al. 2009), SOAPdenovo-Trans (Xie et al. 2014), and IDBA-tran (Peng et al. 2013) have been available for reconstruction of full-length transcripts directly from RNA-seq reads. Generally speaking...
  10. .... 2017. ABySS 2.0: resource-efficient assembly of large s using a Bloom filter. Genome Res 27: 768–777. doi:10.1101/gr.214346.116 ↵Jay TR, von Saucken VE, Landreth GE. 2017. TREM2 in neurodegenerative diseases. Mol Neurodegener 12: 56. doi:10.1186/s13024-017-0197-5 ↵Kim D, Paggi JM, Park C, Bennett C...
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