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Expanding the repertoire of mutations amenable to identification by whole-genome sequencing

Friday, November 08, 2013 — Poster Session III

10:00 a.m. – 12:00 p.m.

FAES Academic Center (Upper-Level Terrace)




  • H. E. Smith
  • S. Yun
  • M. Krause


Whole-genome sequencing provides a rapid and powerful method for identifying mutations in model organisms on a global scale. The technique has spurred a renewed enthusiasm for classical genetic screens. In a typical experiment, chemical mutagenesis is followed by screening for a phenotype of interest. The most commonly characterized category of mutation consists of monogenic, recessive traits (due to their genetic tractability) resulting from single-nucleotide polymorphisms (the predominant class of chemically-induced lesions). Therefore, most of the mapping strategies and bioinformatics tools for mutation identification by whole-genome sequencing are directed toward alleles that fulfill these criteria (i.e., single-gene, homozygous SNPs). However, these approaches are not entirely suitable for the characterization of a variety of more challenging mutations: insertions/deletions, dominant/semi-dominant alleles, and multigenic traits. We have developed alternative strategies for the identification of each of these classes of mutations, using the model organism Caenorhabditis elegans as our test case. We also report a method for high-resolution mapping in gene-rich regions, and a solution to the technical challenge of sequencing non-conditional lethal or sterile strains. These tools extend the applicability of whole-genome sequencing to a broader spectrum of mutations, including classes that are difficult to map by traditional means.

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