Mapping Challenging Mutations by Whole-Genome Sequencing.

摘要: Whole-genome sequencing provides a rapid and powerful method for identifying mutations on global scale, has spurred renewed enthusiasm classical genetic screens in model organisms. The most commonly characterized category of mutation consists monogenic, recessive traits, due to their tractability. Therefore, the mapping methods identification by whole-genome are directed toward alleles that fulfill those criteria (i.e., single-gene, homozygous variants). However, such approaches not entirely suitable characterization variety more challenging mutations, as dominant semidominant or multigenic traits. we have developed strategies classes using polymorphism Caenorhabditis elegans our validation. We also report an alternative approach from traditional recombinant crosses, solution technical challenge sterile terminally arrested strains where population size is limiting. described herein extend applicability broader spectrum including difficult map means.