"Background: Identification of genes responsible for medically important traits is a major challenge in human genetics. Due to the genetic heterogeneity of hearing loss, targeted DNA capture and massi
We propose to use whole exome Agilent solution probes and paired end Illumina sequencing to sequence 4 individuals from two families suffering from novel autosomal recessive disease [microphthalmia, M
Structural variants such as large deletions or insertions are rarely observed in the RS1 gene. Here, we report a 20-year-old male patient with X-linked retinoschisis (XLRS) carrying a novel deletion-i