References for Specific Topics
Alkan C, Coe BP, Eichler EE. Genome structural variation discovery and genotyping. Nature Rev Genet. 2011;12:363–376.
Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood. 2002;99:168–174.
Crow JF. The origins, patterns and implications of human spontaneous mutation. Nature Rev Genet. 2000;1:40–47.
Gardner RJ. A new estimate of the achondroplasia mutation rate. Clin Genet. 1977;11:31–38.
Kong A, Frigge ML, Masson G, et al. Rate of de novo mutations and the importance of father’s age to disease risk. Nature. 2012;488:471–475.
Lappalainen T, Sammeth M, Friedlander MR, et al. Transcriptome and genome sequencing uncovers functional variation in humans. Nature. 2013;501:506–511.
MacArthur DG, Balasubramanian S, Rrankish A, et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science. 2012;335:823–828.
McBride CM, Wade CH, Kaphingst KA. Consumers’ view of direct-to-consumer genetic information. Ann Rev Genomics Hum Genet. 2010;11:427–446.
Stewart C, Kural D, Stromberg MP, et al. A comprehensive map of mobile element insertion polymorphisms in humans. PLoS Genet. 2011;7:e1002236.
Sun JX, Helgason A, Masson G, et al. A direct characterization of human mutation based on microsatellites. Nature Genet. 2012;44:1161–1165.
