Retinopathies are a group of monogenetic or complex retinal diseases associated with high unmet medical need. Monogenic disorders are caused by rare genetic variation and usually arise early in life. Other diseases, such as age-related macular degeneration (AMD), develop late in life and are considered to be of complex origin as they develop from a combination of genetic, ageing, environmental ...

This work presents a novel rotational invariant quadrature filter approach called the conformal monogenic signal for analyzing i(ntrinsic)1D and i2D local features of any curved 2D signal such as lines, edges, corners and junctions without the use of steering. The conformal monogenic signal contains the monogenic signal as a special case for i1D signals and combines monogenic scale space, phase...

The search for causative genetic variants in rare diseases of presumed monogenic inheritance has been boosted by the implementation of whole genome sequencing(WGS). Analysis and visualisation of WGS data is demanding due to its size and complexity. To aid this challenge, we have developed a WGS data analysis suite—RareVariantVis 2. This new, significantly extended implementation of RareVariantV...

Whole exome sequencing (WES) has become a common tool for identifying genetic causes of human inherited disorders, and it has also recently been applied to canine genome research. We conducted WES analysis of neuroaxonal dystrophy (NAD), a neurodegenerative disease that sporadically occurs worldwide in Papillon dogs. The disease is considered an autosomal recessive monogenic disease, which is h...

Prenatal diagnosis of monogenic diseases, such as cystic fibrosis and beta-thalassemia, is currently offered as part of public health programs. However, current methods based on chorionic villus sampling and amniocentesis for obtaining fetal genetic material pose a risk to the fetus. Since the discovery of cell-free fetal DNA in maternal plasma, the noninvasive prenatal assessment of paternally...

Recent genomic projects have revealed the existence of an unexpectedly large amount of deleterious variability in the human genome. Several hypotheses have been proposed to explain such an apparently high mutational load. However, the mechanisms by which deleterious mutations in some genes cause a pathological effect but are apparently innocuous in other genes remain largely unknown. This study...

Canavan's disease (CD) is a fatal autosomal recessive pediatric leukodystrophy in which patients show severe neurodegeneration and typically die by the age of 10, though life expectancy in patients can be highly variable. Currently, there is no effective treatment for CD; however, gene therapy seems to be a feasible approach to combat the disease. Being a monogenic defect, the disease provides ...

Primary electrical diseases of the heart such as the Long QT Syndrome (LQTS), Short QT Syndrome (SQTS), Brugada Syndrome (BrS), and Catecholaminergic polymorphic ventricular tachycardia (CPVT) are inherited monogenic disorders caused by mutations in ion channel genes (ie, channelopathies), calcium handling proteins, or related molecules that occur in the absence of overt structural abnormalitie...

Many Mendelian monogenic disorders are caused by loss of the function of a single protein. This can result from rapid degradation of the mutant protein by cellular proteases, which reduces the steady-state concentration of the protein within the cell. The susceptibility of a protein to such proteolytic breakdown depends upon its kinetics of monomer folding and oligomer assembly and upon the int...

This paper presents an algebraically extended 2D image representation. Combining methods of tensor algebra, monogenic signal and quadrature filter, this novel image representation can be derived as the monogenic extension of a curvature tensor. From it, the monogenic signal and the monogenic curvature signal for modeling intrinsically one and two dimensional (i1D/i2D) structures are obtained as...