A Brief Introduction to Variant Identification and Analysis

The human genome is highly similar across individuals, yet small differences in DNA sequences account for much of our diversity and influence health and disease¹. These differences, known as variants, occur in many forms and can range from single-base changes to large chromosomal rearrangements.

Types of Variants
Variants can be benign, disease-associated, or of uncertain significance. Studying them helps scientists determine whether a mutation contributes...

Drug discovery has long been constrained by technological limitations and an incomplete understanding of disease mechanisms and human biology. But that’s beginning to change with the rise of single-cell technologies like single-cell RNA sequencing (scRNA-seq), which enable more precise target identification, improve target validation, and support better model selection and drug mechanism analysis¹. Although challenges remain, advances in scalable platforms and computational...

At the 2025 AACR (American Association for Cancer Research) Annual Meeting, a plenary session titled “Innovative Technologies Driving Advances in Cancer Research” brought attention to how emerging technologies are changing the way researchers conduct cancer research. Chaired by Alberto Bardelli of IFOM and the University of Turin, the session opened with a pointed thought experiment. He asked today’s researchers to imagine how their labs would function if PCR,...

Synthetic biology combines principles from biology, engineering, and other disciplines to design or redesign biological systems. It also enables the creation of new functions or the improvement of existing ones for practical and predictable use. The field has seen substantial development in recent years and is now delivering real-world solutions. This article highlights recent advances in synthetic biology by examining the challenges and solutions addressed by...

As the first mainstream technology for DNA sequencing, Sanger sequencing laid the foundations for next-generation sequencing (NGS) and contributed to major milestones in genomics like the Human Genome Project. Nearly fifty years after its introduction, Sanger remains a vital and widely used tool in molecular biology labs. This article reviews Sanger’s continued relevance, its integration with other technologies, recent innovations, and where it continues to deliver value in today’s...

After sequencing a genome, the next step is to assemble the millions or even billions of DNA fragments into a complete and continuous sequence. Given the size and complexity, like the ~3 billion bases in the human genome, constructing this sequence presents substantial challenges. This article reviews the current state of genome assembly, highlighting key technical obstacles, recent advancements in sequencing technologies and assembly tools, and emerging trends influencing the future...

The human genome contains a high degree of variation, encompassing both small-scale changes, such as single nucleotide variants, and much larger alterations known as structural variants (SVs). As a major source of genetic diversity, SVs typically span 50 base pairs or more and include insertions, deletions, duplications, inversions, translocations, and complex rearrangements¹. While not all SVs contribute to disease, many play an important role in both rare and common...

The COVID-19 pandemic highlighted the need for proactive pathogen surveillance systems. As ongoing threats like avian influenza and newly emerging infections continue to pose risks, researchers are working to improve how quickly and accurately pathogens can be identified and tracked. In a recent SEQanswers webinar, two experts discussed how next-generation sequencing (NGS) and machine learning are shaping efforts to monitor viral variation and trace the origins of infectious...

This year’s Advances in Genome Biology and Technology (AGBT) General Meeting commemorated the 25^th anniversary of the event at its original venue on Marco Island, Florida. While this year’s event didn’t include high-profile musical performances, the industry announcements and cutting-edge research still drew the attention of leading scientists.

The Headliner
The biggest announcement was Roche stepping back into the sequencing platform market. In the years since...

The human gut contains trillions of microorganisms that impact digestion, immune functions, and overall health¹. Despite major breakthroughs, we’re only beginning to understand the full extent of the microbiome’s influence on health and disease. Advances in next-generation sequencing and spatial biology have opened new windows into this complex environment, yet many questions remain. This article highlights two recent studies exploring how diet influences microbial...