نتایج جستجو برای: homozygosity mapping
تعداد نتایج: 200921 فیلتر نتایج به سال:
Severe viral infections of the skin can occur in patients with inborn errors immunity (IEI). We report an all-in-one whole-transcriptome sequencing-based method by RNA-Seq on a single biopsy for concomitant identification cutaneous virome and underlying IEI. Skin biopsies were obtained from normal lesional suspected to be origin. was utilized as first-tier strategy unbiased human genome-wide ra...
Background: Inherited retinal diseases (IRDs) are a group of genetic disorders with high degrees of clinical, genetic and allelic heterogeneity. IRDs generally show progressive retinal cell death resulting in gradual vision loss. IRDs constitute a broad spectrum of disorders including retinitis pigmentosa and Leber congenital amaurosis. In this study, we performed genotyping studies to identify...
Hearing Loss (HL) represents high genetic heterogeneity with an incidence of almost 1 out of 500 newborns in most populations. Approximately half of the cases have a genetic basis that most of them are autosomal recessive non-syndromic (ARNSHL) with DFNB1-related defect in many worldwide populations. Given the heterogeneity of the trait together with the unique infrastructure of Iranian populat...
Parkinson’s disease (PD) is a prevalent neurodegenerative disease that usually affects individuals over 50 years of age. Age at onset in a small subset of PD cases is considerably lower, and these are considered early-onset PD (EOPD) patients. Most PD cases appear sporadic, but approximately 15% are familial, and some of the familial cases exhibit Mendelian inheritance. Genetic analysis of fami...
Homozygosity is a commonly used summary of allele-frequency distributions at polymorphic loci. Because high-frequency alleles contribute disproportionately to the homozygosity of a locus, it often occurs that most homozygotes are homozygous for the most frequent allele. To assess the relationship between homozygosity and the highest allele frequency at a locus, for a given homozygosity value, w...
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