The largest genome sequencing effort for a single population is reported in a focus issue of Nature Genetics (http://www.nature.com/ng/focus/icelanders/index.html). The research included whole-genome sequencing of 2,636 individuals from Iceland, as well as characterization of patterns of genetic variation, population structure, mutation rate and evolution. The authors also examined disease predisposition and identified loss-of-function variants in ABCA7 that increase risk of Alzheimer's disease. Of note, Sulem et al. catalogued autosomal genes showing complete knockout from rare loss-of-function mutations. An accompanying Data Descriptor in Scientific Data details the data sets and resources available. Together, this work provides a valuable genomic resource and exemplifies the insights that can be obtained from population-scale sequencing.
References
Steinberg, S. et al. Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease. Nature Genet. http://www.dx.doi.org/10.1038/ng.3246 (2015)
Sulem, P. et al. Identification of a large set of rare complete human knockouts. Nature Genet. http://www.dx.doi.org/10.1038/ng.3243 (2015)
Helgason, A. et al. The Y-chromosome point mutation rate in humans. Nature Genet. http://www.dx.doi.org/10.1038/ng.3171 (2015)
Gudbjartsson, D. F. et al. Large-scale whole-genome sequencing of the Icelandic population. Nature Genet. http://www.dx.doi.org/10.1038/ng.3247 (2015)
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Bahcall, O. Population-scale sequencing in Iceland. Nat Rev Genet 16, 257 (2015). https://doi.org/10.1038/nrg3946
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DOI: https://doi.org/10.1038/nrg3946
