Subit Barua

1 Introduction The EP300 gene (OMIM#: 602700) encodes p300, a protein initially discovered as a nuclear binding target of the adenovirus E1A cancer protein with a molecular weight of 300 kDa (Eckner et al. 1994; Whyte et al. 1989). It functions as a histone acetyltransferase and transcription coactivator that regulates transcription via chromatin remodeling.

Abstract Aims Targeted next-generation sequencing (NGS) panels, which identify genomic alterations, are the stronghold of molecular oncology laboratories. In spite of technological advances, the quantity and quality of DNA from formalin-fixed paraffin-embedded tissue and paucicellular specimens are barriers to successful sequencing. Here, we describe an NGS assay employing single tube stem-loop inhibition mediated amplification technology that delivers highly accurate results with low input DNA.

1. Introduction The cone-rod dystrophies (CORDs) are subgroups of inherited retinal diseases (IRDs) and can be inherited through AR, AD, or XL (1). The prevalence is about 1/20,000–100,000 (1, 2). Victims of CORDs suffer from progressive vision loss, photophobia, and color vision abnormalities in childhood or early adulthood (3). CORDs are characterized by both cone and rod photoreceptor abnormality, which can be distinguished from cone dystrophy by involvement of rod dysfunction (2).