IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies
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Congenital stationary night blindness (CSNB) is a heterogeneous retinal disorder characterized by visual impairment under low light conditions. This disorder is due to a signal transmission defect from rod photoreceptors to adjacent bipolar cells in the re ...
Purpose: Retinitis pigmentosa (RP; MIM 268000) is a hereditary disease characterized by poor night vision and progressive loss of photoreceptors, eventually leading to blindness. This degenerative process primarily affects peripheral vision due to the loss ...
The goal of eliminating tuberculosis (TB) by 2050 depends on the development of improved TB diagnostics, drugs and vaccines. Advances in these areas require a deep understanding of the disease and its causative agent, Mycobacterium tuberculosis (M. tb). My ...
The application of geocomputation to the field of landscape genomics (Manel et al. 2010) permits to carry out demanding computational tasks that recently emerged because of the advent of large Next-Generation Sequencing data. When investigating the genetic ...
Landscape genomics is an emerging research field that bridges genetics and genomics to geo-environmental resources analysis. It aims to study genome/environment interaction to discover the genetic basis of adaptation by processing of many simultaneous DNA- ...
Joint FAO/IAEA Division of Nuclear Techniques in Food and Agriculture2010
Copy-number variations (CNVs) are widespread in the human genome, but comprehensive assignments of integer locus copy-numbers (i.e., copy-number genotypes) that, for example, enable discrimination of homozygous from heterozygous CNVs, have remained challen ...
Next-generation high-throughput DNA sequencing techniques are opening fascinating opportunities in the life sciences. Novel fields and applications in biology and medicine are becoming a reality, beyond the genomic sequencing which was original development ...
Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations. This retinal disorder is characterized by complete loss of color discrimination due to the absence or alteration of the cones function. Th ...
Among the largest resources for biological sequence data is the large amount of expressed sequence tags (ESTs) available in public and proprietary databases. ESTs provide information on transcripts but for technical reasons they often contain sequencing er ...
