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Stay informed about the latest scientific discoveries in rare disease care through our curated collection of Rare Diseases Research Articles. Explore a wealth of information on treatment approaches, emerging healthcare strategies, and scientific breakthroughs. Whether you're a patient, caregiver, or healthcare professional, these articles provide valuable insights to inform your decisions.
Sponsored By- Asymmetric Introgressive Hybridization Among Louisiana Iris Species
In this review, we discuss findings from studies carried out over the past 20+ years that document the occurrence of asymmetric introgressive hybridization in a plant clade. In particular, analyses of... Read More
- An Examination of KCNE1 Mutations and Common Variants in Chronic Tinnitus
Chronic tinnitus is a highly prevalent and often incapacitating condition frequently associated with sensorineural hearing loss. While its etiology remains incompletely understood there is a growing a... Read More
- Next Generation DNA Sequencing and the Future of Genomic Medicine
In the years since the first complete human genome sequence was reported, there has been a rapid development of technologies to facilitate high-throughput sequence analysis of DNA (termed next-genera... Read More
- Next Generation Sequencing of miRNAs Strategies, Resources and Methods
miRNAs constitute a family of small RNA species that have been demonstrated to play a central role in regulating gene expression in many organisms. With the advent of next generation sequencing, new o... Read More
- The Application of Next Generation Sequencing in DNA Methylation Analysis
DNA methylation is a major form of epigenetic modification and plays essential roles in physiology and disease processes. In the human genome, about 80% of cytosines in the 56 million CpG sites are me... Read More
- An Infectious Topic in Reticulate Evolution: Introgression and Hybridization in Animal Parasites
Little attention has been given to the role that introgression and hybridization have played in the evolution of parasites. Most studies are host-centric and ask if the hybrid of a free-living species... Read More
- Population Genomics of Secondary Contact
One common form of reticulate evolution arises as a consequence of secondary contact between previously allopatric populations. Using extensive coalescent simulations, we describe the conditions for, ... Read More
- Next Generation Sequencing: Advances in Characterizing the Methylome
Epigenetic modifications play an important role in lymphoid malignancies. This has been evidenced by the large body of work published using microarray technologies to generate methylation profiles for... Read More
- Review of the Application of Modern Cytogenetic Methods (FISH/GISH) to the Study of Reticulation (Polyploidy/Hybridisation)
The convergence of distinct lineages upon interspecific hybridisation, including when accompanied by increases in ploidy (allopolyploidy), is a driving force in the origin of many plant species. In pl... Read More
- Staggered Chromosomal Hybrid Zones in the House Mouse: Relevance to Reticulate Evolution and Speciation
In the house mouse there are numerous chromosomal races distinguished by different combinations of metacentric chromosomes. These may come into contact with each other and with the ancestral all-acroc... Read More
- 454-Pyrosequencing: A Molecular Battiscope for Freshwater Viral Ecology
Viruses, the most abundant biological entities on the planet, are capable of infecting organisms from all three branches of life, although the majority infect bacteria where the greatest degree of cel... Read More
- Next Generation Sequencing of Ancient DNA: Requirements, Strategies and Perspectives
The invention of next-generation-sequencing has revolutionized almost all fields of genetics, but few have profited from it as much as the field of ancient DNA research. From its beginnings as an inte... Read More
- Transgenic Mouse Studies to Understand the Regulation, Expression and Function of the Testis-Specific Protein Y-Encoded (TSPY) Gene
The TSPY gene, which encodes the testis-specific protein, Y-encoded, was first discovered and characterized in humans, but orthologous genes were subsequently identified on the Y chromosome of many ot... Read More
- A Computer Simulator for Assessing Different Challenges and Strategies of de Novo Sequence Assembly
This study presents a new computer program for assessing the effects of different factors and sequencing strategies on de novo sequence assembly. The program uses reads from actual sequencing studies ... Read More
- Expression of the Y-Encoded TSPY is Associated with Progression of Prostate Cancer
TSPY is a Y-encoded gene that is expressed in normal testicular germ cells and various cancer types including germ cell tumor, melanoma, hepatocellular carcinoma, and prostate cancer. Currently, the c... Read More
- Bioinformatics for Next Generation Sequencing Data
The emergence of next-generation sequencing (NGS) platforms imposes increasing demands on statistical methods and bioinformatic tools for the analysis and the management of the huge amounts of data ge... Read More
- TSPY and Male Fertility
Spermatogenesis requires the concerted action of thousands of genes, all contributing to its efficiency to a different extent. The Y chromosome contains several testis-specific genes and among them th... Read More
- Statistical Issues in the Analysis of ChIP-Seq and RNA-Seq Data
The recent arrival of ultra-high throughput, next generation sequencing (NGS) technologies has revolutionized the genetics and genomics fields by allowing rapid and inexpensive sequencing of billions ... Read More
- Role of Cell Division Autoantigen 1 (CDA1) in Cell Proliferation and Fibrosis
Cell Division Autoantigen 1 (CDA1) was discovered following screening a human expression library with serum from a patient with Discoid Lupus Erythematosus. CDA1, encoded by TSPYL2 on the X chromosome... Read More
- Gene Conversion and Evolution of Gene Families: An Overview
The importance of gene conversion for the evolution of gene families is reviewed. Four problems concerning gene conversion, i.e., concerted evolution, generation of useful variation, deleterious effec... Read More