نتایج جستجو برای: haplotyping

تعداد نتایج: 559  

Journal: :The Journal of heredity 2007
Shu-Jin Luo Warren E Johnson Victor A David Marilyn Menotti-Raymond Roscoe Stanyon Qing Xiu Cai Thomas Beck Naoya Yuhki Jill Pecon-Slattery James L D Smith Stephen J O'Brien

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...

Journal: :Journal of Clinical Neurology (Seoul, Korea) 2008
Seul-Ki Jeong Dong-Chan Kim Yong-Gon Cho Il-Nam Sunwoo Dal-Sik Kim

BACKGROUND AND PURPOSE At least 100 Ryanodine receptor type 1 (RYR1) mutations associated with malignant hyperthermia (MH) and central core disease (CCD) have been identified, but 2 RYR1 mutations accompanying multiminicore myopathy in an MH and/or CCD family have been reported only rarely. METHODS Fifty-three members of a large MH family were investigated with clinical, histopathologic, RYR1...

2006
Xiang-Sun Zhang Rui-Sheng Wang Ling-Yun Wu Wei Zhang

The Minimum Error Correction (MEC) is an important model for haplotype reconstruction from SNP fragments. However, this model is effective only when the error rate of SNP fragments is low. In this paper, we propose a new computational model called Minimum Conflict Individual Haplotyping (MCIH) as an extension to MEC. In contrast to the conventional approaches, the new model employs SNP fragment...

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