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Foundation, co-evolution with NGS, and impact

Population genomics is the use of DNA data from entire populations to understand the genetic makeup of a group of individuals, human or otherwise. We previously covered the basics of population genomics and how next-generation sequencing (NGS) expanded the field here.¹ Since then, population genomics has co-evolved with NGS to achieve measurable impacts in several areas.

This article will cover:

● How...

Cancer is increasingly understood as an ecosystem in which tumor cells co-evolve with immune, stromal, and vascular components of the surrounding tumor microenvironment (TME). These interactions affect disease progression, therapeutic response, and the emergence of resistance. Yet, the molecular mechanisms underlying these processes have long been difficult to resolve. Next-generation sequencing (NGS) technologies now enable high-resolution analysis of this dynamic landscape....

Synthetic biology has advanced quickly in the last decade, and a lot of that is because of next-generation sequencing (NGS). In synthetic biology, engineering principles are applied to biological systems, to modify or create new biological organisms or molecules. Because of this, the working paradigm is the design-build-test-learn (DBTL) cycle.

With the instructions to every organism, system, or molecule being encoded in DNA, NGS is crucial...

Current NGS technologies easily deliver terabases of data in a single run. At the same time, AI is on the rise, with many touting its potential for handling complex, high-volume information. In this article, we will break down how AI models are being implemented in NGS from primary to tertiary analysis, and whether they pose an advantage in accuracy, speed, and genomic insights.

Basecalling: where chemistry determines impact

Basecalling is a foundational step...

The Human Genome Project generated the human reference genome over 13 years at a cost of $3 billion.¹ That massive undertaking used the low-throughput Sanger method, which sequences one DNA fragment at a time. While this strategy remains useful for interrogating small genomic regions, modern next-generation sequencing (NGS) technologies can simultaneously sequence millions of fragments in a single run, enabling the analysis of hundreds to thousands of genes at once.

Today, rapid...

Spatial transcriptomic technologies offer multiple paths for measuring gene expression within intact tissue, each defined by distinct technical and practical tradeoffs that can impact experimental design. In a recent SEQanswers webinar, Michal Lipinski, Senior Scientist at the Broad Institute’s Spatial Technology Platform, provided a detailed overview of spatial transcriptomics to help researchers decide whether to invest in these methods and how to choose among available technologies....

Many people living with rare diseases spend years searching for answers.^1,2 The path to a correct diagnosis is filled with repeated tests, specialist referrals, and long stretches of uncertainty. This experience is widely known as the diagnostic odyssey, and it can be deeply frustrating for families who can’t begin appropriate care until they understand the cause of their condition. Christine Eng, M.D., Chief Medical Officer and Chief Quality Officer at Baylor Genetics, is among...

The American Society of Human Genetics (ASHG) 2025 annual meeting took place in Boston last week, opening with a presidential address by ASHG President Sarah Tishkoff. She honored former NIH Director Francis Collins for his decades of leadership and impact on the genetics community. Both Tishkoff and Collins reflected on the field’s progress and expressed optimism about new treatments for genetic diseases. They also urged scientists to advocate for restoring NIH funding amid the...

Single-cell RNA sequencing (scRNA-seq) provides unprecedented detail into complex cellular processes, with each experiment generating millions of reads that capture the transcriptional activity of millions of individual cells. This capability makes scRNA-seq powerful for studying complex systems, but also challenges researchers to translate the data into clear biological conclusions. To meet these analytical demands, robust computational tools have become essential for tasks such...

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...