Transposable elements are abundant in the human genome, and great strides have been
made in pinpointing variations in these repetitive sequences using whole-genome …

Over evolutionary time, the dynamic nature of a genome is driven, in part, by the activity of
transposable elements (TE) such as retrotransposons. On a shorter time scale it has been …

Numerous protocols have been described for producing neural retina from human
pluripotent stem cells (hPSCs), many of which are based on the culture of 3D organoids …

Motivation: Most RNA-seq data analysis software packages are not designed to handle the
complexities involved in properly apportioning short sequencing reads to highly repetitive …

Repetitive DNA sequences are abundant in a broad range of species, from bacteria to
mammals, and they cover nearly half of the human genome. Repeats have always …

Retinitis pigmentosa (RP) is a heterogeneous set of inherited retinopathies with many
disease‐causing genes, many known mutations, and highly varied clinical consequences …

Inherited retinal degenerations (IRDs) represent a diverse group of progressive, visually
debilitating diseases that can lead to blindness in which mutations in genes that are critical …

The retinal degenerative diseases, which together constitute a leading cause of hereditary
blindness worldwide, are largely untreatable. Development of reliable methods to culture …

Purpose To devise a comprehensive multiplatform genetic testing strategy for inherited
retinal disease and to describe its performance in 1000 consecutive families seen by a …

Retinal organoids are three-dimensional structures derived from human pluripotent stem
cells (hPSCs) which recapitulate the spatial and temporal differentiation of the retina, serving …