Bioinformatics applies unbiased approaches to develop statistically-robust insight into health and disease. At the global, or "20,000 foot" view bioinformatic analyses of vitamin D receptor (NR1I1/VDR) signaling can measure where the VDR gene or protein exerts a genome-wide significant impact on biology; VDR is significantly implicated in bone biology and immune systems, but not in cancer. With...

Nowadays, the diagnosis of disease based on genomic information is feasible by searching genetic variations on DNA sequences. However, geneticists struggle with bioinformatic tools that are supposed to simplify DNA sequence analysis. As a universal tool to support every requirement is far from be implemented, geneticists themselves must solve the data exchange among several tools. Due to the fa...

The ability to generate high-quality sequence data in a public health laboratory enables the identification of pathogenic strains, the determination of relatedness among outbreak strains, and the analysis of genetic information regarding virulence and antimicrobial-resistance genes. However, the analysis of whole-genome sequence data depends on bioinformatic analysis tools and processes. Many p...

Background: Genetic analysis in mice has lead to find about maternal effect genes such as Filia. Filia knock out mice have a 50% decrease in fertility. Filia dysfunction causes disorders in pre-implantation development. Mutations in human Filia gene, cause FBHM (Familial Biparental Hydatidiform Mole) in women. Filia protein in mice is homologous to that of rat and human, so this idea has emerge...

Broadly speaking, bioinformatics is simply the application of computers to solve biological problems. In this context, bioinformatics has been around for decades. Although more specific definitions for bioinformatics will vary, the National Center for Biotechnology Information proposed that bioinformatics represents the field of science wherein biology, computer science and information technolo...

BACKGROUND Recent studies have demonstrated equal quality of targeted next generation sequencing (NGS) compared to Sanger Sequencing. Whereas these novel sequencing processes have a validated robust performance, choice of enrichment method and different available bioinformatic software as reliable analysis tool needs to be further investigated in a diagnostic setting. METHODS DNA from 21 pati...

The rapid evolution of all sequencing technologies, described by the term Next Generation Sequencing (NGS), have revolutionized metagenomic analysis. They constitute a combination of high-throughput analytical protocols, coupled to delicate measuring techniques, in order to potentially discover, properly assemble and map allelic sequences to the correct genomes, achieving particularly high yiel...

Bioinformatics includes a suite of methods, which are cheap, approachable, and many of which are easily accessible without any sort of specialized bioinformatic training. Yet, despite this, bioinformatic tools are under-utilized by immunologists. Herein, we review a representative set of publicly available, easy-to-use bioinformatic tools using our own research on an under-annotated human gene,...