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The next phase in human genetics

Nature Biotechnology volume 29, pages 38–39 (2011)Cite this article

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Experimental haplotyping of whole genomes is now feasible, enabling new studies aimed at linking sequence variation to human phenotypes and disease susceptibility.

Haplotype information is essential for human genetic research because of the fundamental importance of diploidy in human biology, as seen in phenomena such as haploinsufficiency, recessive acting variants, dosage compensation and parent-of-origin imprinting effects. A simple example that shows the need for phasing is compound heterozygosity, which occurs when an individual is a heterozygote carrier of two different mutations at different loci in the same gene. In such cases, a phenotype may arise only when the two mutations are present on different chromosomes, disrupting both copies of the encoded protein3. In a more complex example, the two mutations may give rise to a mutated protein from one chromosome and aberrant allele-specific expression or methylation from the other. Assessing the combined effect of mutations implicated in compound heterozygosity requires phase information; simply knowing that an individual is heterozygous at the two loci is not enough. Resolving phase is also important for addressing a range of other problems in human genetics, including characterizing the genomes of under-studied populations7, comparing chromosomal segments shared between homo sapiens and distant ancestors, and detecting complex genomic structural variation.

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Figure 1: Experimental approaches to haplotyping genomes.

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Authors and Affiliations

  1. Vikas Bansal, Eric J. Topol & Nicholas J. Schork are at Scripps Health, La Jolla, California, USA.,

    Vikas Bansal, Eric J Topol & Nicholas J Schork

  2. Vikas Bansal, Ryan Tewhey, Eric J. Topol & Nicholas J. Schork are at The Scripps Translational Science Institute, La Jolla, California, USA.,

    Vikas Bansal, Ryan Tewhey, Eric J Topol & Nicholas J Schork

  3. Eric J. Topol & Nicholas J. Schork are in The Department of Experimental Medicine, The Scripps Research Institute, La Jolla, California, USA.,

    Eric J Topol & Nicholas J Schork

Authors
  1. Vikas Bansal
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  2. Ryan Tewhey
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  3. Eric J Topol
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  4. Nicholas J Schork
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Correspondence to Nicholas J Schork.

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Bansal, V., Tewhey, R., Topol, E. et al. The next phase in human genetics. Nat Biotechnol 29, 38–39 (2011). https://doi.org/10.1038/nbt.1757

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