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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Analyses of X-linked and autosomal genetic variation in population-scale whole genome sequencing
Srikanth Gottipati1, Leonardo Arbiza, Adam Siepel
1Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, New York, USA.
Abstract:
The ratio of genetic diversity on chromosome X to that on the autosomes is sensitive to both natural selection and demography. On the basis of whole-genome sequences of 69 females, we report that whereas this ratio increases with genetic distance from genes across populations, it is lower in Europeans than in West Africans independent of proximity to genes. This relative reduction is most parsimoniously explained by differences in demographic history without the need to invoke natural selection.
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