PURPOSE Stargardt disease (STGD) is a common macular dystrophy in juveniles that is commonly inherited as an autosomal recessive trait. Mutations in five genes (ABCA4, PROM1, ELOVL4, BEST1, and PRPH2) have been reported to be associated with STGD. In the present study, we aimed to identify the pathogenic mutations in affected members in a Chinese STGD pedigree. METHODS One patient was selecte...

Recent advances in genome sequencing technologies provide unprecedented opportunities to characterize individual genomic landscapes and identify mutations relevant for diagnosis and therapy. Specifically, whole-exome sequencing using next-generation sequencing (NGS) technologies is gaining popularity in the human genetics community due to the moderate costs, manageable data amounts and straight...

Neurology 2012;79:112–114 Extraordinary advances in genetics and genomics are revolutionizing the practice of medicine. In this issue of Neurology, 3 articles demonstrate the utility of exome sequencing for identifying the genetic cause of neurologic disorders. This issue represents a landmark in neurogenetics: the concurrent publication of 3 such examples highlights the rapidly changing landsc...

In cancer genome studies, the annotation of newly detected oncogene/tumor suppressor gene candidates is a challenging process. We propose using concept lattice analysis for the annotation and interpretation of genes having candidate somatic mutations in whole-exome sequencing in acute myeloid leukemia (AML). We selected 45 highly mutated genes with whole-exome sequencing in 10 normal matched sa...

. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . xvi CHAPTER 1. GENERAL INTRODUCTION . . . . . . . . . . . . . . . . . . . 1 1.1 HLA typing and related applications . . . . . . . . . . . . . . . . . . . . . . . . 1 1.1.1 HLA genes and their function . . . . . . . . . . . . . . . . . . . . . . . . 2 1.1.2 HLA diversity and nomenclature . . . . . . . . . . . . . . . ....