The special issue highlights novel computational methods for integrating spatial transcriptomics data, improving haplotype assembly and analysis of genomic variation. Several studies present innovative approaches for metagenomic data analyses, long-read sequencing, and genome karyotyping.
This special issue highlights novel applications of long-read sequencing technologies in biology and medicine, including human disease detection, rare disease diagnostics, and structural variation analysis. Several studies demonstrate the use of long-read sequencing data approaches to overcome challenges posed by repetitive regions, id...
Genes & Development has appointed Professor Andrew Dillin as Editor-in-Chief and Dr. Eric Sawey as Executive Editor, expanding the journal's scope into new fields such as physiology, metabolism, and molecular neuroscience. The journal will continue to publish groundbreaking discoveries in molecular and cellular biology.
This special issue highlights novel applications and developments in long-read sequencing, offering advances in genome assembly and annotation, characterization of complex genomic rearrangements, and full-length mRNA isoform resolution. Long-read technologies are expanding understanding of rare diseases and impacting germline testing.
This special issue presents a collection of 20 computational methods and their applications in genomics, including spatial, single-cell, and long-read sequencing. Key findings include the development of PRiMeR for disease risk predictors and SF-Relate for identifying genetic relatives across distributed genomic datasets.
The special issue features original research on novel computational methods for single-cell genomics, as well as perspective review articles on the past, present, and future of the field. Key findings include advances in cell type identification and classification, single-cell epigenetics, and spatial transcriptomics.
The COVID-19 pandemic requires scalable testing technologies, but current methods vary widely, taking hours to complete and requiring extensive resources. Researchers assess various nucleic acid-based tests, highlighting the need for faster and more affordable alternatives.
A new gene therapy has been developed to specifically reduce fat tissue and reverse obesity-related metabolic disease in obese mice by targeting a fatty acid metabolism gene. The therapy resulted in a 20% reduction of body weight and improved insulin resistance and inflammation after just six weeks of treatment.
Researchers have developed new sequencing technologies to generate more complete reference genomes of Caenorhabditis elegans, a widely studied model organism. The studies provide insights into the organism's genome structure, gene regulation, and development, expanding its usefulness for biologists.
Researchers discovered drug-resistant E. faecium in untreated and treated wastewater from hospital sewage recipients, highlighting genetic relatedness to human disease-causing strains. Terminal ultraviolet light disinfection may reduce environmental contamination with these pathogens.
Researchers developed PopPUNK, a computational tool that analyzes tens of thousands of bacterial genomes in a single run, up to 200-fold faster than previous methods. This enables the efficient estimation of population structure and easy identification of emerging strains.
Researchers characterized the maternal microbiome during pregnancy, revealing variations in bacterial diversity across different body sites and gestational stages. The study highlights the importance of the maternal microbiome in supporting healthy pregnancy outcomes and may inform targeted interventions to promote fetal development.
Researchers have identified nine Northern White Rhino (NWR) cryopreserved cell lines that could serve as a genetic rescue for the critically endangered species. The study found distinct genetic variation between NWR and Southern White Rhino (SWR), with potential for a tailored recovery program.
The genome sequencing of the Atacama skeleton has uncovered novel mutations linked to dysplasia, highlighting the need for improved guidelines in publishing historical and ancient DNA samples. The study's publication in Genome Research has raised concerns about ethical standards and prompted discussions on journal policies.
A 6-inch human skeleton discovered in Chile had high-quality DNA suitable for modern sequencing technology, revealing insights into its ancestry and phenotype. Multiple genetic mutations linked to diseases such as dwarfism and musculoskeletal abnormalities were found.
Scientists discovered that in vitro-transcribed gRNAs containing a 5' triphosphate moiety activate the immune response in human cells, leading to cell death. However, pretreatment with phosphatase can remove the 5'ppp group and significantly reduce T cell host immune response and cytotoxicity.