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Next-generation genotype imputation service and methods
TLDR
Improvements to imputation machinery are described that reduce computational requirements by more than an order of magnitude with no loss of accuracy in comparison to standard imputation tools.
Nrl is required for rod photoreceptor development
TLDR
It is reported that deletion of Nrl in mice results in the complete loss of rod function and super-normal cone function, mediated by S cones, and postulate that Nrl acts as a 'molecular switch' during rod-cell development by directly modulating rod-specific genes while simultaneously inhibiting the S-cone pathway through the activation of Nr2e3.
A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration
TLDR
It is proposed that rs10490924 SNP represents a major susceptibility variant for AMD at 10q26, which has a highly conserved ortholog in chimpanzee, but not in other vertebrate sequences and encodes a 12-kDa protein, which localizes to the mitochondrial outer membrane when expressed in mammalian cells.
Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina
TLDR
A step-wise 'transcriptional dominance' model of photoreceptor cell fate determination is proposed, with the S cone representing the default state of a generic photorecept precursor.
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.
TLDR
An in-frame deletion in a novel centrosome- and cilia-associated protein CEP290 is identified, leading to early-onset retinal degeneration in a newly identified mouse mutant, rd16, and a critical function for CEP 290 in ciliary transport is suggested.
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
TLDR
The results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.
Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration
TLDR
A genome-wide association scan for age-related macular degeneration (AMD) showed that 329 of 331 individuals with the highest-risk genotypes were cases, and 85% of these had advanced AMD, consistent with the hypothesis that HDL metabolism is associated with AMD pathogenesis.
Seven New Loci Associated with Age-Related Macular Degeneration
TLDR
A collaborative genome-wide association study, including >17,100 advanced AMD cases and >60,000 controls of European and Asian ancestry, identifies 19 loci associated at P < 5 × 10−8, which show enrichment for genes involved in the regulation of complement activity, lipid metabolism, extracellular matrix remodeling and angiogenesis.
Retinal repair by transplantation of photoreceptor precursors
TLDR
It is shown that donor cells can integrate into the adult or degenerating retina if they are taken from the developing retina at a time coincident with the peak of rod genesis, and the ontogenetic stage of donor cells for successful rod photoreceptor transplantation is defined.
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