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Saccharomyces cerevisiaehas become an important model organism in the field of evolutionary genomics. Comparative genomic analysis of laboratory, wild and domesticated yeast populations is generating insights into how new species form and how populations adapt to their environments.
For clinical cases of Mendelian disease that lack a genetic diagnosis, genome and exome sequencing are increasingly used for seeking the genetic cause. This Review discusses the strategies and computational tools for prioritizing the many genetic variants identified in each genome into those that are most likely to be causal for disease. The authors discuss how diverse types of biochemical, evolutionary, pedigree and clinical-phenotype information are used, and they highlight common pitfalls to be aware of for responsible variant prioritization.
The authors review the concept of synthetic lethality — when the perturbation of one of two genes alone is viable, but the perturbation of both genes simultaneously results in the loss of viability — from model organisms to human cancers, and discuss how genetic interactions can be exploited for the identification of new drug targets in cancer.
The last 25 years has seen a revolution in sequencing, with more than 100 vertebrate genome sequences now available. In this Review, Meadows and Lindblad-Toh discuss how the genomics of non-human organisms can provide insights into vertebrate biology and conservation, and how they can contribute to the understanding of human health and disease.