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A large-scale analysis of SNPs and genes that are reported to be associated with common complex diseases and traits has found abundant pleiotropy: that is, each individual gene mutation may have a role in multiple diseases.

Exome sequencing is a powerful approach for accelerating the discovery of the genes underlying Mendelian disorders and, increasingly, of genes underlying complex traits. This Review describes the experimental and analytical options for applying exome sequencing and the key challenges in using this approach.

Genetic and genomic approaches — including high-throughput sequence analysis and transcriptomics experiments — are revealing a clearer picture of the pathophysiological steps underlying the different forms of heart failure (genetic and acquired) and the genomic responses to cardiac overload.

Individual human genomes are coming thick and fast, but they lack information on the combination of alleles along single chromosomes — the haplotype. Although common haplotypes can be identified using statistical and family-based approaches, direct methods for readily determining individual haplotypes would be extremely valuable for many areas of research, from population genetics to pharmacogenomics.