Current Advances and Future Directions in Rare Disease Diagnosis

Rare diseases affect an estimated 3.5–5.9% of the global population¹. Patients dealing with these conditions not only face a direct impact on their health but also frequently encounter challenges in identifying the genetic origins of their disorder. This often leaves them with limited treatment options. However, the field of rare disease diagnosis has seen significant advances with the introduction of next-generation sequencing (NGS). Essential techniques like whole-exome sequencing...

The recent pandemic caused worldwide health, economic, and social disruptions with its reverberations still felt today. A key takeaway from this event is the need for accurate and accessible tools for detecting and tracking infectious diseases. Timely identification is essential for early intervention, managing outbreaks, and preventing their spread. This article reviews several valuable tools employed in the detection and surveillance of infectious diseases....

Microbiome research has led to the discovery of important connections to human and environmental health. Sequencing has become a core investigational tool in microbiome research, a subject that we covered during a recent webinar. Our expert speakers shared a number of advancements including improved experimental workflows, research involving transmission dynamics, and invaluable analysis resources. This article recaps their informative presentations, offering insights...

Spatial technologies have improved our understanding of the transcriptome by providing insights into the spatial organization and interactions of cells. While next-generation sequencing (NGS) remains an important approach and is the main focus of our community, its data alone is unable to resolve unique spatial information. Jacob Stern, Director of Product Management at 10X Genomics, emphasized how numerous researchers choose to use both spatial platforms and single-cell...

Single-cell sequencing has become a transformative tool in biological research by providing scientists with the ability to detect cellular heterogeneity. The evolution of this technology has led to its widespread adoption, resulting in a seemingly endless list of publications, each emphasizing insights gained from its application. In this article, we’ll briefly review several key advancements in single-cell sequencing that have led to its continual rise.

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At the intersection of cytogenetics and genomics lies the exciting field of cytogenomics. It focuses on studying chromosomes at a molecular scale, involving techniques that analyze either the whole genome or particular DNA sequences to examine variations in structure and behavior at the chromosomal or subchromosomal level. By integrating cytogenetic techniques with genomic analysis, researchers can effectively investigate chromosomal abnormalities related to diseases, particularly...

Cancer research has been transformed through numerous molecular techniques, with RNA sequencing (RNA-seq) playing a crucial role in understanding the complexity of the disease. Maša Ivin, Ph.D., Scientific Writer at Lexogen, and Yvonne Goepel Ph.D., Product Manager at Lexogen, remarked that “The high-throughput nature of RNA-seq allows for rapid profiling and deep exploration of the transcriptome.” They emphasized its indispensable role in cancer research, aiding in biomarker...

Ribonucleic acid (RNA) represents a range of diverse molecules that play a crucial role in many cellular processes. From serving as a protein template to regulating genes, the complex processes involving RNA make it a focal point of study for many scientists. This article will spotlight various methods scientists have developed to investigate different RNA subtypes and the broader transcriptome.

Whole Transcriptome RNA-seq
Whole transcriptome sequencing...

Continual advancements in genomic and computational technologies have allowed researchers to construct precise pictures of individual genomes and identify variations that distinguish one genome from another. In order to fully understand the impact of these variants, it is essential to determine their chromosomal context in a process known as phasing. In this article, we'll explore some of the current technologies and approaches fundamental to this process.

What is ph...

San Diego-based Singular Genomics was founded in 2016 with the goal of overcoming the limitations of the available sequencing tools. Using feedback from scientists and clinicians, Singular designed and launched their G4ä Sequencing System. It stands out as a powerful benchtop sequencing platform with significantly reduced run times, delivering high-quality data in less than 24 hours across a wide array of applications. Notably, the G4 is capable of sequencing up to four human...