منابع مشابه
HomozygosityMapper—an interactive approach to homozygosity mapping
Homozygosity mapping is a common method for mapping recessive traits in consanguineous families. In most studies, applications for multipoint linkage analyses are applied to determine the genomic region linked to the disease. Unfortunately, these are neither suited for very large families nor for the inclusion of tens of thousands of SNPs. Even if less than 10,000 markers are employed, such an ...
متن کاملThe First Iranian Case of Mucopolysaccharidosis IIIC: Use of Homozygosity Mapping in a Consanguineous Pedigree
Mucopolysaccharidosis type IIIC (MPSIIIC) is a rare subtype of mucopolysaccharidosis disorder family caused by mutations in heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. MPSIIIC is subdivided into four subtypes which have overlapping features, and are indistinguishable at clinical level. In populations with high consanguineous marriage rate, homozygosity mapping can be a good c...
متن کاملFine Mapping Regions of Excess Homozygosity-by-descent in Palau
Schizophrenia is a devastating psychiatric disorder that affects approximately 1% of the general population. Its complexity and enigmatic etiology place an economic and social burden on public health resources, while causing emotional distress for patients and their families. Twin, family, and adoption studies have shown evidence for a genetic component, but its complex pattern of inheritance h...
متن کاملHomozygosity mapping of the Achromatopsia locus in the Pingelapese.
Achromatopsia, or total color blindness (also referred to as "rod monochromacy"), is a severe retinal disorder characterized clinically by an inability to distinguish colors, impaired visual acuity in daylight, photophobia, and nystagmus. Inherited as an autosomal recessive trait, achromatopsia is rare in the general population (1:20,000-1:50,000). Among the Pingelapese people of the Eastern Ca...
متن کاملHomozygosityMapper2012—bridging the gap between homozygosity mapping and deep sequencing
Homozygosity mapping is a common method to map recessive traits in consanguineous families. To facilitate these analyses, we have developed HomozygosityMapper, a web-based approach to homozygosity mapping. HomozygosityMapper allows researchers to directly upload the genotype files produced by the major genotyping platforms as well as deep sequencing data. It detects stretches of homozygosity sh...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2000
ISSN: 0002-9297
DOI: 10.1016/s0002-9297(07)62966-8