for Specific Topics
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…
References
General References Olson MV. Human genetic individuality. Ann Rev Genomics Hum Genet. 2012;13:1–27. Strachan T, Read A. Human molecular genetics. ed 4. Garland Science: New York; 2010. 2012. The 1000…
of Mutation and Polymorphism
Impact of Mutation and Polymorphism Although it will be self-evident to students of human genetics that new deleterious mutations or rare variants in the population may have clinical consequences, it…
in Individual Genomes
Variation in Individual Genomes The most extensive current inventory of the amount and type of variation to be expected in any given genome comes from the direct analysis of individual…
Origin and Frequency of Different Types of Mutations
Figure 4-4 Examples of mutations in a portion of a hypothetical gene with five codons shown (delimited by the dotted lines). The first base pair of the second codon in the reference…
Nature of Genetic Variation
http://genome.ucsc.edu/cgi-bin/hgGatewayhttp://www.ensembl.org/Homo_sapiens/Info/IndexThe Single Nucleotide Polymorphism Database (dbSNP) and the Structural Variation Database (dbVar) are databases of small-scale and large-scale variations, including single nucleotide variants, microsatellites, indels, and CNVs.http://www.ncbi.nlm.nih.gov/snp/http://www.ncbi.nlm.nih.gov/dbvar/The 1000 Genomes Project…
Content of the Human Genome
Figure 3-1 The amplification of genetic information from genome to gene products to gene networks and ultimately to cellular function and phenotype. The genome contains both protein-coding genes (blue) and noncoding RNA…
for Specific Topics
References for Specific Topics Bartolomei MS, Ferguson-Smith AC. Mammalian genomic imprinting. Cold Spring Harbor Perspect Biol. 2011;3:1002592. Beck CR, Garcia-Perez JL, Badge RM, et al. LINE-1 elements in structural variation…
