نتایج جستجو برای: str haplotyping
تعداد نتایج: 6432 فیلتر نتایج به سال:
background: breast cancer is the most common malignancy in women. breast cancer type 1 susceptibility gene (brca1) is a tumor suppressor gene, involved in dna damage repair and in 81% of the breast-ovarian cancer families were due to brca1. in some clinically investigated genes, the intragenic marker polymorphism is important and the screening of such mutations is faster by using short tandem r...
The reference database of highly informative Y-chromosomal short tandem repeat (STR) haplotypes (YHRD), available online at http://ystr.charite.de, represents the largest collection of male-specific genetic profiles currently available for European populations. By September 2000, YHRD contained 4688 9-locus (so-called "minimal") haplotypes, 40% of which have been extended further to include two...
Y chromosome haplotyping based on microsatellites and single nucleotide polymorphisms (SNPs) has proved to be a powerful tool for population genetic studies of humans. However, the promise of the approach is hampered in the majority of nonhuman mammals by the lack of Y-specific polymorphic markers. We were able to identify new male-specific polymorphisms in the domestic cat Felis catus and 6 ad...
Haplotyping, also known as haplotype phase prediction, is the problem of predicting likely haplotypes based on genotype data. One fast computational haplotyping method is based on an evolutionary model where a perfect phylogenetic tree is sought that explains the observed data. In their CPM’09 paper, Fellows et al. studied an extension of this approach that incorporates prior knowledge in the f...
Haplotyping, also known as haplotype phase prediction, is the problem of predicting likely haplotypes based on genotype data. One fast computational haplotyping method is based on an evolutionary model where a perfect phylogenetic tree is sought that explains the observed data. An extension of this approach tries to incorporate prior knowledge in the form of a set of candidate haplotypes from w...
limb girdle muscular dystrophies (lgmds) are group of neuromuscular disorders which are characterized by progressive muscle weakness and they mostly affect the pelvic and shoulder girdle muscles. this disease can be inherited as autosomal dominant (lgmd1) and autosomal recessive (lgmd2). so far seven autosomal dominant and 20 autosomal recessive forms of this disease have been recognized reflec...
the hla class ii genes of human major histocompatibility complex (mhc) exhibit an extensive degree of genetic polymorphism. this region subdivides into four sub-regions dp, do, dq, and dr. there are five different dr haplotypes that all contain a highly polymorphic allele called hla-drb1. in most recent studies, the association between hla-drb1 and a large number of diseases such as multiple sc...
One of the main topics in genomics is to determine the relevance of DNA variations with some genetic disease. Single nucleotide polymorphism (SNP) is the most frequent and important form of genetic variation which involves a single DNA base. The values of a set of SNPs on a particular chromosome copy define a haplotype. Because of its importance in the studies of complex disease association, ha...
Recent technologies for typing single nucleotide polymorphisms (SNPs) across a population are producing genome-wide genotype data for tens of thousands of SNP sites. The emergence of such large data sets underscores the importance of algorithms for large-scale haplotyping. Common haplotyping approaches first partition the SNPs into blocks of high linkage-disequilibrium, and then infer haplotype...
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