Articles tagged Data & Databases
(16 results)

Improved duplex sequencing identifies spontaneous mutations in bacteria without long-term culturing. Spontaneous mutations are the driving force of evolution, yet, our ability to detect and study them can be limited to mutations that accumulate clonally. Sequencing technology often cannot identify very rare variants or discriminate between bona fide mutations and errors introduced during sample preparation.…

Machine learning and access to ever-expanding databases improves genomic prediction of human traits. In theory, a scientist could predict your height using just your genome sequence. In practice, though, this is still the stuff of science fiction. It’s not only your genes that affect height—environment also plays a role—but the larger problem is that height…

Programmed ribosomal frameshifting has translational costs that may influence codon usage bias. The genetic code has some redundancy—the same amino acid is often encoded by several codons. However, these codons are not necessarily equal in their effect, as evidenced by the codon usage bias observed in many organisms. The translation efficiency hypothesis posits that some…

Low-cost sequencing closes gaps in fly genomes. Genetic sequencing technologies have revolutionized biological science, and regular advances in these tools continue to deliver better genomic data—more accurate and more useful—at a lower cost. In G3: Genes|Genomes|Genetics, Miller et al. report the genomes of 15 Drosophila species sequenced using Oxford Nanopore technology. Their work improves on…

GC content alone is associated with distinct functional classes of human enhancers. Because enhancers can be located hundreds of kilobases away from their target genes, it can be challenging to accurately predict their functions. A new report in GENETICS uses sequence composition to distinguish two enhancer classes that have distinct functions and spatial organization in humans.…

For the first time in nearly 15 years, the rat genetic map has been updated. Genetic maps help us navigate uncharted data, but to successfully use them to link genes to complex traits, their resolution must be high enough to yield a manageable list of candidate variants. That’s why genetic maps for mice and humans…

Offshoot of the modENCODE project provides crucial data and strains for understanding gene regulation. Following a multidisciplinary effort spanning six institutions, researchers working on the modERN (model organism Encyclopedia of Regulatory Networks) project have released a powerful resource for biologists studying the fruit fly Drosophila melanogaster and the nematode worm Caenorhabditis elegans. So far, report Kudron,…

Sequencing a genome is not as simple as reading a book. All those neatly lined up letters are the final product of a complex process made up of many intricate steps that can—and do—go wrong. In a report published in G3: Genes|Genomes|Genetics, Peccoud et al. put their painful sequencing experiences to good use providing new insights into…

The Genetics Society of America (GSA) is pleased to announce that Philip Hieter is the recipient of the 2018 George W. Beadle Award, bestowed in honor of his outstanding contributions to the genetics research community. Hieter is Professor of Medical Genetics in the Michael Smith Laboratories at the University of British Columbia. Geneticists across the…

Every scientist is familiar with the p-value: it’s one of the most commonly used metrics in statistics to evaluate the likeliness that an observed relationship is due to chance. Typically, a cutoff is set at p=0.05, such that any p-value of greater than 0.05 means the result is deemed “not statistically significant”—a heartbreaking outcome for…

For many of the roughly 300 million people around the world with rare diseases, the road to diagnosis can be long, painful, expensive, and disheartening. Around eighty percent of very infrequently seen undiagnosed diseases are estimated to have a genetic basis, but even with modern DNA sequencing techniques, the causes are often unclear. In these…