Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom.

Eur J Hum Genet
Authors
Keywords
Abstract

Isolated populations with enrichment of variants due to recent population bottlenecks provide a powerful resource for identifying disease-associated genetic variants and genes. As a model of an isolate population, we sequenced the genomes of 1463 Finnish individuals as part of the Sequencing Initiative Suomi (SISu) Project. We compared the genomic profiles of the 1463 Finns to a sample of 1463 British individuals that were sequenced in parallel as part of the UK10K Project. Whereas there were no major differences in the allele frequency of common variants, a significant depletion of variants in the rare frequency spectrum was observed in Finns when comparing the two populations. On the other hand, we observed >2.1 million variants that were twice as frequent among Finns compared with Britons and 800 000 variants that were more than 10 times more frequent in Finns. Furthermore, in Finns we observed a relative proportional enrichment of variants in the minor allele frequency range between 2 and 5% (P

Year of Publication
2017
Journal
Eur J Hum Genet
Volume
25
Issue
4
Pages
477-484
Date Published
2017 04
ISSN
1476-5438
DOI
10.1038/ejhg.2016.205
PubMed ID
28145424
PubMed Central ID
PMC5346294
Links
Grant list
Wellcome Trust / United Kingdom
089061 / Wellcome Trust / United Kingdom
089062 / Wellcome Trust / United Kingdom
098051 / Wellcome Trust / United Kingdom