Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants

Retinitis Pigmentosa (RP) is a clinically and genetically heterogeneous disorder that results in inherited blindness. Despite the large number of genes identified, only ~  60% of cases receive a genetic diagnos...

Source: Journal of Translational Medicine - February 12, 2020 Category: Research Authors: Mar ía González-del Pozo, Elena Fernández-Suárez, Marta Martín-Sánchez, Nereida Bravo-Gil, Cristina Méndez-Vidal, Enrique Rodríguez-de la Rúa, Salud Borrego and Guillermo Antiñolo Tags: Research Source Type: research