Streamlined Mutliplexed Strategies for Variant/Mutation Identification

Date: Wednesday, June 8, 2016
Time: 12:10 PM
Room: Waterfront 1
Matthew Harris , Harvard Medical School, Boston, MA
Katrin Henke , Harvard Medical School, Boston, MA
Matthew Harris and Katrin Henke, Harvard Medical School, Boston Children's Hospital

Fishes are of considerable importance for future foodstock sustainability. They also serve as important models detailing the genetic regulation of development and disease. Understanding the genetic regulation of phenotypic traits, both complex and Mendelian is key to support both aquaculture and biomedical research. Classic genetic approaches aimed at understanding the variants underlying traits require tracking specific crosses and an in depth analysis of linkage. Even with this ability, finding the causative nucleotide variant(s) is problematic as non-causative variants can be in linkage disequilibrium with the causative mutation. With the advent of massively parallel sequencing platforms, it is feasible to define variation within a strain or population allowing for analysis of biased allele frequency in individuals harboring a particular phenotype. With sufficient sampling of resting variation within a population, one can define potential variants that can provide markers to assess linkage or function of a locus. We will discuss recent progress using these methods in identification of mutations in the zebrafish. Extension of this approach may also be useful in identifying key loci in complex phenotypes.

Title: Streamlined mutliplexed strategies for variant/mutation identification
Submitter's E-mail Address: harris@genetics.med.harvard.edu

Session Selection: Fish Genomes and Transcriptomes Workshop

Matthew Harris
Harvard Medical School, Boston Children's Hospital

Email: harris@genetocs.med.harvard.edu