The field of epigenetics has traditionally concentrated more on DNA and how changes like methylation and phosphorylation of histones impact gene expression and regulation. However, our increased understanding of RNA modifications and their importance in cellular processes has led to a rise in epitranscriptomics research. “Epitranscriptomics brings together the concepts of epigenetics and gene expression,” explained Adrien Leger, PhD, Principal Research Scientist...
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Essential Discoveries and Tools in Epitranscriptomics
The field of epigenetics has traditionally concentrated more on DNA and how changes like methylation and phosphorylation of histones impact gene expression and regulation. However, our increased understanding of RNA modifications and their importance in cellular processes has led to a rise in epitranscriptomics research. “Epitranscriptomics brings together the concepts of epigenetics and gene expression,” explained Adrien Leger, PhD, Principal Research Scientist... -
Current Approaches to Protein Sequencing
Proteins are often described as the workhorses of the cell, and identifying their sequences is key to understanding their role in biological processes and disease. Currently, the most common technique used to determine protein sequences is mass spectrometry. While still a valuable tool, mass spectrometry faces several limitations and requires a highly experienced scientist familiar with the equipment to operate it. Additionally, other proteomic methods, like affinity assays, are constrained... -
Strategies for Sequencing Challenging Samples
Despite advancements in sequencing platforms and related sample preparation technologies, certain sample types continue to present significant challenges that can compromise sequencing results. Pedro Echave, Senior Manager of the Global Business Segment at Revvity, explained that the success of a sequencing experiment ultimately depends on the amount and integrity of the nucleic acid template (RNA or DNA) obtained from a sample. “The better the quality of the nucleic acid isolated... -
Techniques and Challenges in Conservation Genomics
The field of conservation genomics centers on applying genomics technologies in support of conservation efforts and the preservation of biodiversity. This article features interviews with two researchers who showcase their innovative work and highlight the current state and future of conservation genomics.
Avian Conservation
Matthew DeSaix, a recent doctoral graduate from Kristen Ruegg’s lab at The University of Colorado, shared that most of his research... -
The Impact of AI in Genomic Medicine
Artificial intelligence (AI) has evolved from a futuristic vision to a mainstream technology, highlighted by the introduction of tools like OpenAI's ChatGPT and Google's Gemini. In recent years, AI has become increasingly integrated into the field of genomics. This integration has enabled new scientific discoveries while simultaneously raising important ethical questions1. Interviews with two researchers at the center of this intersection provide insightful perspectives into... -
Multiomics Techniques Advancing Disease Research
New and advanced multiomics tools and technologies have opened new avenues of research and markedly enhanced various disciplines such as disease research and precision medicine1. The practice of merging diverse data from various ‘omes increasingly provides a more holistic understanding of biological systems. As Maddison Masaeli, Co-Founder and CEO at Deepcell, aptly noted, “You can't explain biology in its complex form with one modality.”
A major leap in the field has... -
The 3D Genome: New Technologies and Emerging Insights
The study of three-dimensional (3D) genomics explores the spatial structure of genomes and their role in processes like gene expression and DNA replication. By employing innovative technologies, researchers can study these arrangements to discover their role in various biological processes. Scientists continue to find new ways in which the organization of DNA is involved in processes like development1 and disease2.
Basic Organization and Structure
Understanding... -
An Introduction to Population Genomics
The Basics of Population Genomics
Population genomics utilizes comprehensive DNA sequence analysis on a wide scale to reveal patterns in genetic variation. It provides valuable information that can be used to better understand ancestry, health, evolution, and more. In many cases, human population genomics studies are focused on diseases and healthcare with the primary objective of finding genetic biomarkers for diagnostics and therapeutics1.
By focusing on large... -
The Diverse Applications of Ancient DNA Research
For many, the idea of ancient DNA (aDNA) can invoke images from the iconic movie scene with a mosquito trapped in amber, or perhaps one of the real discoveries involving a woolly mammoth perfectly preserved in ice1. However, this field is much more than unearthing prehistoric animals or a real project working to resurrect them2. The study of aDNA is vital for interpreting the past and making sense of the present. For example, Swedish geneticist Svante Pääbo... -
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...
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