Blocks of Limited Haplotype Diversity Revealed by High-Resolution Scanning of Human Chromosome 21

By N. Patil, Anthony J. Berno, D. Hinds, Wade A. Barrett, J. Doshi, C. Hacker, C. Kautzer, Danny H. Lee, C. Marjoribanks, David P. McDonough and 12 more. Science, 2001

1,189 citations recorded by the source corpus.

Subfields: Genetics

View Paper: https://www.semanticscholar.org/paper/320424a63c28989227305ba411bfbca82ab796c8

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

Citations in the corpus

Next-generation DNA sequencing (2008, methodology): “With the approach taken by Affymetrix (Santa Clara, CA, USA) and Perlegen (Mountain view, CA, USA) (in performing extensive SNP discovery in human 84 , mouse 85 and yeast 86 , for example), each possible single-base substitution is represented on the array by an independent feature.”
The future of association studies: gene-based analysis and replication. (2004, background): “However, this allele is extremely rare in European populations (Shibuya and Yoshida 1988; Peterson et al. 1999).”
Haplotype blocks and linkage disequilibrium in the human genome (2003, methodology): “As the size of these blocks is similar to the average distance between consecutive markers (except for the Patil et al. 45 study) the identification of smaller blocks is beyond the resolution of these studies.”
A haplotype map of the human genome. (2003, background): “(23), a general pattern repeatedly found in other studies as well (11, 30).”
Chromosome 21 and Down syndrome: from genomics to pathophysiology (2004, background): “The initial assessment of LINKAGE DISEQUILIBRIUM structure of polymorphic sites involved re-sequencing 20 haploid human genomes from different ethnic groups using tiled oligonucleotide arrays of the non-repetitive fraction of 21q (Ref”
Advanced sequencing technologies: methods and goals (2004, neutral): “These factors render a substantial fraction of chromosome 21 (>50%) inaccessibl”
Likelihood-Based Inference on Haplotype Effects in Genetic Association Studies (2006, background): “One appealing approach is to consider the haplotypes for multiple SNPs within candidate genes (Hallman et al., 1999; International SNP Map Working Group, 2001; Patil et al., 2001; Stephens et al., 2001).”
Genome-wide association studies for common diseases and complex traits (2005, background): “Most of the genome falls into segments of strong LD, within which variants are strongly correlated with each other, and most chromosomes carry one of only a few common HAPLOTYPES”
Efficiency and power in genetic association studies (2005, background): “Correlations among nearby variants (linkage disequilibrium, LD) can improve the cost-effectiveness of such studie”
The linkage disequilibrium and the selection of genetic markers for association studies in European populations (2007, methodology): “The first large-scale publicly available SNP set was generated by Perlegen Sciences, Inc. in 2001 (Patil et al. 2001).”
Genealogical trees, coalescent theory and the analysis of genetic polymorphisms (2002, background): “As the actual pattern of LD in the human genome becomes cleare”