Skip to main content
Premium Trial:

Request an Annual Quote

The Simple Life? Not for Us


In looking over the pages of this issue of Genome Technology, it occurs to me that there's a theme here — however unintentional it may have been when we started. Many of the articles this month revolve around the concept of complexity.

Remember all those years ago when Incyte boasted about having 100,000 human genes in its database? It was quite a disappointment when the community homed in on the real number of human genes, leaving our egos just a bit bruised as we wondered how we could be such delightfully complex creatures when we had the same gene count as a mouse (or, for that matter, Arabidopsis).

As GT readers have known for a long time, there's a lot more than gene count factoring into genetic diversity. Our cover story delves into the world of alternative splicing, a genomic phenomenon that allows us to be economical in number of genes but without skimping on the products they encode. As Jeanene Swanson reports, scientists are using a range of technologies to study why and how alternate splicing takes place — as well as the effect it has on organism development. Research in this field has led to a better understanding of diseases, particularly in neurodegenerative conditions that have proven difficult to make sense of with other approaches.

While splicing adds a significant layer of complexity to genomic studies, so too does copy number variation, the focus of a feature story in this issue. While we may have just 20,000 (ish) genes, we're sneaky with them, packing our genomes with copies of the same genes. Sometimes they're inverted or changed ever so slightly, as if our genome was afraid of getting caught stacking the deck. In our article on CNV, we checked in with scientists leading the field to find out more about increasing use of variation studies in model organisms, the tools needed to accurately and comprehensively find gene copies, and how the mechanism has helped scientists establish links to disease. One expert we interviewed, Harvard's Charles Lee, went so far as to predict that a clear link of cancer predisposition with copy number variation is "right around the corner."

Of course, complexity goes way beyond the genomic level. Ciara Curtin reports on the growing field of metabolomics. Her feature story describes the advances researchers have made in the detection and deconvolution of metabolites, while noting that they're still grappling with establishing more comprehensive databases. In his Brute Force column, Matt Dublin considers the nascent glycomics space, focusing on the informatics at play there as well as on the community's attempt to implement standards early in the game.

The Scan

Long COVID-19 Susceptibility Clues Contained in Blood Plasma Proteome

A longitudinal study in eBioMedicine found weeks-long blood plasma proteome shifts after SARS-CoV-2 infection, along with proteomic signatures that appeared to coincide with long Covid risk.

Tibetan Study Finds Adaptive Variant Influencing Skin Pigmentation

With a combination of phenotyping and genetic data, researchers document at PNAS a Tibetan-enriched enhancer variant influencing melanin synthesis and ultraviolet light response.

Domestication Linked to Nervous System Genes in Inbred Mouse Strains

Researchers highlighted more than 300 positively selected genes in domesticated mice, including genes linked to nervous system function or behavior in Genome Biology.

ALS Genetic Testing May Be Informative Across Age Ranges, Study Finds

Researchers in the journal Brain identified clinically actionable variants in a significant subset of older ALS patients, prompting them to point to the potential benefits of broader test use.