Allelic resolution NGS HLA typing of Class I and Class II loci and haplotypes in Cape Town, South Africa.

The development of next-generation sequencing (NGS) methods for HLA genotyping has already had an impact on the scope and precision of HLA research. In this study, allelic resolution HLA typing was obtained for 402 individuals from Cape Town, South Africa. The data were produced by high-throughput NGS sequencing as part of a study of T-cell responses to Mycobacterium tuberculosis in collaboration with the University of Cape Town and Stanford University.

The evolution of Pyrosequencing® for microbiology: From genes to genomes.

Pyrosequencing is a unique sequencing method that was developed as an alternative to classical DNA sequencing for short- to medium-read applications. Compared to other methods, it is highly quantitative, fast and inexpensive. Additional advantages include high accuracy, flexibility and ability to automate sample preparation.

New highly sensitive and accurate lyophilized real-time RT-PCR tests for early detection of avian influenza.

New lyophilized real-time reverse transcription (RT)-PCR avian influenza detection assays were designed and tested. The M-gene assay detects all avian influenza virus (AIV) subtypes, and the H5 and H7 specific assays can discriminate the AIV subtypes H5 and H7 of Eurasian origin. The assays are formulated in a lyophilized bead format containing an internal positive control to monitor inhibitors in the reaction.

Molecular inversion probes for sensitive detection of Mycobacterium tuberculosis.

Nucleic acid-based detection of Mycobacterium tuberculosis infections has the potential to improve the analysis of the tuberculosis epidemiology and patient care by increasing the specificity and sensitivity of diagnosis. One potential diagnostic sequence, the DR locus, is present in all isolates of M. tuberculosis complex bacteria.

CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.

The mutation spectrum of CYP1B1 among 104 primary congenital glaucoma patients of the genetically heterogeneous Iranian population was investigated by sequencing. We also determined intragenic single nucleotide polymorphism (SNP) haplotypes associated with the mutations and compared these with haplotypes of other populations. Finally, the frequency distribution of the haplotypes was compared among primary congenital glaucoma patients with and without CYP1B1 mutations and normal controls.