Genomic region containing only a few distinct haplotypes
In genetics, a haplotype block is a region of an organism's genome in which there is little evidence of a history of genetic recombination, and which contain only a small number of distinct haplotypes.[1] According to the haplotype-block model, such blocks should show high levels of linkage disequilibrium and be separated from one another by numerous recombination events.[2] The boundaries of haplotype blocks cannot be directly observed; they must instead be inferred indirectly through the use of algorithms. However, some evidence suggests that different algorithms for identifying haplotype blocks give very different results when used on the same data,[3] though another study suggests that their results are generally consistent.[4] The National Institutes of Health funded the HapMap project to catalog haplotype blocks throughout the human genome.[5]
^Gabriel, S. B.; Daly, Mark J.; Lander, Eric S.; Ward, Ryk; Cooper, Richard; Adeyemo, Adebowale; Rotimi, Charles; Liu-Cordero, Shau Neen; Faggart, Maura (2002-06-21). "The Structure of Haplotype Blocks in the Human Genome". Science. 296 (5576): 2225–2229. Bibcode:2002Sci...296.2225G. doi:10.1126/science.1069424. ISSN 0036-8075. PMID 12029063. S2CID 10069634.
^Wall, Jeffrey D.; Pritchard, Jonathan K. (1 August 2003). "Haplotype blocks and linkage disequilibrium in the human genome". Nature Reviews Genetics. 4 (8): 587–597. doi:10.1038/nrg1123. PMID 12897771. S2CID 15478115.
^Schulze, Thomas G.; Zhang, Kui; Chen, Yu-Sheng; Akula, Nirmala; Sun, Fengzhu; McMahon, Francis J. (1 February 2004). "Defining haplotype blocks and tag single-nucleotide polymorphisms in the human genome". Human Molecular Genetics. 13 (3): 335–342. doi:10.1093/hmg/ddh035. PMID 14681300.
^Indap, Amit R; Marth, Gabor T; Struble, Craig A; Tonellato, Peter; Olivier, Michael (2005). "Analysis of concordance of different haplotype block partitioning algorithms". BMC Bioinformatics. 6 (1): 303. doi:10.1186/1471-2105-6-303. PMC 1343594. PMID 16356172.
^Cardon, Lon R.; Abecasis, Gonçalo R. (March 2003). "Using haplotype blocks to map human complex trait loci". Trends in Genetics. 19 (3): 135–140. CiteSeerX 10.1.1.398.8937. doi:10.1016/S0168-9525(03)00022-2. PMID 12615007.
In genetics, a haplotypeblock is a region of an organism's genome in which there is little evidence of a history of genetic recombination, and which...
each other due to the changes in haplotypeblocks. This means that tag SNPs, as representatives of the haplotypeblocks, are unique in populations and population...
following functionalities: LD & haplotypeblock analysis Haplotype population frequency estimation Single SNP and haplotype association tests Permutation...
subject to lateral gene transfer and recombination, where different haplotypeblocks can have different histories. In these types of analysis, the output...
strain, a chromosome will typically incorporate 2 to 5 alternating haplotypeblocks with underlying genotypes such as BBBBBCCCCBBBCCCCCCCC, where each...
Moore JM, Roy J, Blumenstiel B, et al. (June 2002). "The structure of haplotypeblocks in the human genome". Science. 296 (5576): 2225–9. Bibcode:2002Sci...
homozygous markers in the genome, and they occur when an identical haplotypeblock is inherited from both parents. They are also called "identical by...
Faggart, Maura; Liu-Cordero, Shau Neen (2002-06-21). "The Structure of HaplotypeBlocks in the Human Genome". Science. 296 (5576): 2225–2229. Bibcode:2002Sci...
Lander ES; Daly MJ; Altshuler D; et al. (2003). "The structure of haplotypeblocks in the human genome". Science. 296 (5576): 2225–2229. doi:10.1126/science...
evidence and functional analysis. The interface also represents the haplotypeblocks from which diploid genome sequence can be inferred and the relation...
Wallberg, C. Schoning, M. T. Webster, M. Hasselmann (2017). "Two extended haplotypeblocks are associated with adaptation to high altitude habitats in East African...
rs12148722 SNP was mildly associated with velopharyngeal dysfunction. A haplotypeblock within C15orf32 was associated with acute myeloid leukemia. A deletion...
arrangement lacks variation, while the ancestral one does not. If the inverted haplotype is not lost (eg. due to drift), the variation in the inverted arrangement...
Description="Read Depth"> ##FORMAT=<ID=HQ,Number=2,Type=Integer,Description="Haplotype Quality"> #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA00001 NA00002...
diseases. And the HLA A1-B8 haplotype is linked to a very long piece of conserved chromosome 6 variant called AH8.1 haplotype. In these studies HL-A1,8...
factor for the number of gene lineages, zygosity mutations, and founding haplotypes present in today's Indigenous peoples of the Americas populations. The...
clade was basal to all other wolves except for the Himalayan wolf. A haplotype is a group of genes found in an organism that are inherited together from...
in some places like Michigan, Phragmites australis (haplotype M) has become the dominant haplotype. The problem is invasive non-native Phragmites australis...
both haplogroups in Europe means that recombination between inverted haplotypes can result in the lack of one of the functioning copies of the gene, resulting...
that he was a Barb, as his descendants' Y-DNA traces to the same general haplotype as the Darley Arabian, though to different sub-groups and there are relatively...
haplotypes not detected before. The Canis c.f. variabilis specimen clustered with other wolf samples from across Russia and Asia. The mDNA haplotypes...
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