A comparison of cataloged variation between international HapMap consortium and 1000 genomes project data

Journal of the American Medical Informatics Association

Volumn 19, Issue 2, 2012, Pages 289-294

  Buchanan, Carrie C ^a,b   Torstenson, Eric S ^a   Bush, William S ^a   Ritchie, Marylyn D ^b  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^b PENNSYLVANIA STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COMPARATIVE STUDY; GENE FREQUENCY; GENE SEQUENCE; GENETIC VARIABILITY; HAPLOTYPE MAP; HUMAN; HUMAN GENETICS; HUMAN GENOME PROJECT; MINOR ALLELE FREQUENCY; SINGLE NUCLEOTIDE POLYMORPHISM;

BASE SEQUENCE; DATABASES, GENETIC; GENE FREQUENCY; GENETIC VARIATION; GENOME, HUMAN; GENOTYPE; HAPMAP PROJECT; HUMAN GENOME PROJECT; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84857156825     PISSN: 10675027     EISSN: 1527974X     Source Type: Journal    
DOI: 10.1136/amiajnl-2011-000652     Document Type: Article

References (8)

1. Donis-Keller H, Green P, Helms C, et al. A genetic linkage map of the human genome. Cell 1987;51:319-37.
2. Weissenbach J, Gyapay G, Dib C, et al. A second-generation linkage map of the human genome. Nature 1992;359:794-801.
3. Manolio TA, Collins FS. The HapMap and genome-wide association studies in diagnosis and therapy. Annu Rev Med 2009;60:443-56.
4. Altshuler D, Brooks LD, Chakravarti A, et al. A haplotype map of the human genome. Nature 2005;437:1299-320.
5. Patterson K. 1000 genomes: a world of variation. Circ Res 2011;108:534-6.
6. Durbin RM, Abecasis GR, Altshuler DL, et al. A map of human genome variation from population-scale sequencing. Nature 2010;467:1061-73.
7. Rhead B, Karolchik D, Kuhn RM, et al. The UCSC Genome Browser database: update 2010. Nucleic Acids Res 2010;38(Database issue):D613-19.
8. Nothnagel M, Herrmann A, Wolf A, et al. Technology-specific error signatures in the 1000 Genomes Project data. Hum Genet 2011;130:505-16.