From The MarthLab
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[edit] Aaron Quinlan
Postdoctoral Researcher
Email: quinlaaa at bc dot edu
[edit] Current Projects
- PyroBayes: An accurate base calling application for 454 pyrosequences.
- Whole-genome SNP discovery in ten Drosophila melanogaster isolates using 454 pyrosequences.
- Whole-genome polymorphism discovery with Illumina/Solexa sequences.
- Complete mutational profiling of Pichia stipitis with 454, Illumina and AB SOLiD sequencing technologies.
- Polymorphism discovery in macaque and chimp with 454 pyrosequences.
- Diploid base calling of Sanger capillary sequences for heterozygote detection.
[edit] Publications
- A. R. Quinlan, D. A. Stewart, M. P. Stromberg, and G. T. Marth. PYROBAYES: An improved base caller for SNP discovery in pyrosequences., Nature Methods, in press, expected Feb 2008. http://bioinformatics.bc.edu/marthlab/PyroBayes.
- LaDeana W. Hillier, Gabor T. Marth, Aaron R. Quinlan, David Dooling, Ginger Fewell, Derek Barnett, Paul Fox, Jarret I. Glasscock, Matthew Hickenbotham, Weichun Huang, Vincent J. Magrini, Ryan J. Richt, Sacha N. Sander, Donald A. Stewart, Michael Stromberg, Eric F. Tsung, Todd Wylie, Tim Schedl, Richard K. Wilson and Elaine R. Mardis. Whole Genome Sequencing and SNP Discovery for C. elegans using massively parallel sequencing-by-synthesis. Nature Methods, in press, expected Feb 2008.
- A. R. Quinlan, G. T. Marth. Primer-site SNPs mask mutations, Nature Methods 4, 192 (Mar, 2007). http://bioinformatics.bc.edu/marthlab/pcrbias/
- A. R. Quinlan, A. G. Clark, G. Fewell, M. Stromberg, E. R. Mardis and G. T. Marth. Whole-genome SNP discovery in ten Drosophila melanogaster lines with light-shotgun 454 pyrosequences. Manuscript in review. http://bioinformatics.bc.edu/marthlab/DrosophilaSNP.
[edit] Other Interests
- High-throughput methods for detecting and quantifying CpG methylation. Such methods could be used to investigate the spectrum of epigenetic variability among cell types, haplotypes, and individuals, as well as between healthy and diseased tissue.
- Assesing the "resequencability" of genomes with short read sequencing technologies. Shorter reads are much more susceptible to ambiguous alignments, especially in mammalian and plant genomes.
- Informatics approaches to efficient use of next-generation sequence technologies.
- The genetics of neurodegenerative disease.
[edit] Invited Lectures
- 10/2007: Cornell University, Department of Molecular Biology and Genetics. From a zillion little pieces: Challenges and applications of new sequencing technologies.
- 8/2006: Washington University Genome Sequencing Center. Current research topics in high throughput sequencing informatics.
[edit] Poster Presentations
- May 2007. PyroBayes: Accurate base calling of 454 pyrosequences. The Biology of Genomes, CSHL.
- May 2007. Whole-genome polymorphism discovery with light-shotgun, single-coverage 454 pyrosequences. The Biology of Genomes, CSHL.
- January 2007. Software tools for assessing genetic sequence variations in new super-high throughput sequencing machine data. Pacific Symposium on Biocomputing, Wailea, HI.
- May 2006. A computational tool for polymorphism detection in DNA resequencing data, The Biology of Genomes, CSHL.
- October 2005. Bayesian Polymorphism Detection. ASHG, Salt Lake City, Utah.
[edit] Related Links
- The International HapMap Project
- The Human Epigenome Project
- The Drosophila Population Genomics Project
- FlyBase
- WormBase
[edit] Awards
- 2004-2007. Presidential Fellowship in Biology, Boston College
[edit] Downloads
Coming soon.
