The Structure of Haplotype Blocks in the Human Genome

By Stacey Gabriel, S. Schaffner, Huy L. Nguyen, Jamie M Moore, J. Roy, B. Blumenstiel, J. Higgins, M. DeFelice, Amy L Lochner, M. Faggart and 8 more. Science, 2002

5,956 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/579080ee4d89a84f15d9792a12982bdd03403941

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Citations in the corpus

Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. (2004, methodology): “" We adapted the haplotype block definition from Gabriel et al. (2002) to identify haplotype blocks in our data set.”
Impact of selection, mutation rate and genetic drift on human genetic variation. (2003, background): “Recent data demonstrated wide alternations in the polymorphism density along the genome and postulated existence of stable haplotype blocks (11,12).”
Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4. (2005, methodology): “Genotyping was performed, as described elsewhere (Gabriel et al. 2002), by primer extension of multiplex products with detection by matrix-assisted laser desorption/ionization time-of-flight mass spectroscopy (Tang et al.”
Genome-Wide Association (2007, methodology): “Tag SNPs are SNPs that provide the most information for association studies (10,11), available from data provided by the International HapMap Project (12).”
A review of feature selection techniques in bioinformatics (2007, background): “This approach aims to identify a subset of SNPs that can either distinguish all the common haplotypes [36], or at least explain a certain percentage of them.”
A multiple testing correction method for genetic association studies using correlated single nucleotide polymorphisms (2008, methodology): “We also used the Haploview software [Barrett et al., 2005] and Gabriel et al.’s definition on haplotype blocks [Gabriel et al., 2002] because they take advantage of the LD structure among SNPs. Based on the haplotype block output from the Haploview software, we divided the SNP data into 13 blocks,…”