When the Human Genome Project was completed in 2003, automated Sanger DNA sequencing with fluorescent dye labels was the dominant technology. Several nascent alternative methods based on older ideas that had not been fully developed were the focus of technical researchers and companies. Funding agencies recognized the dynamic nature of technology development and that, beyond the Human Genome Project, there were growing opportunities to deploy DNA sequencing in biological research. Consequently, the National Human Genome Research Institute of the National Institutes of Health created a program-widely known as the Advanced Sequencing Technology Program-that stimulated all stages of development of new DNA sequencing methods, from innovation to advanced manufacturing and production testing, with the goal of reducing the cost of sequencing a human genome first to $100,000 and then to $1,000. The events of this period provide a powerful example of how judicious funding of academic and commercial partners can rapidly advance core technology developments that lead to profound advances across the scientific landscape.
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http://dx.doi.org/10.1146/annurev-genom-111919-082433 | DOI Listing |
Genome Med
January 2025
Otology & Neurotology Group CTS495, Instituto de Investigación Biosanitario, Ibs.GRANADA, Universidad de Granada, 18071, Granada, Spain.
Background: Familial Meniere's disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is largely unknown.
Methods: We retrieved exome sequencing data from 94 individuals in 70 Meniere's disease (MD) families.
Cell Commun Signal
January 2025
Department of General Biochemistry, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Krakow, Poland.
The RNase activity of MCPIP1 is essential for regulating cellular homeostasis, proliferation, and tumorigenesis. Our study elucidates the effects of downregulation of MCPIP1 expression and an RNase-inactivating mutation (D141N) on normal epithelial kidney cells, indicating that MCPIP1 expression is a key factor that suppresses neoplastic transformation. We observed that either expression downregulation or mutation of MCPIP1 significantly increased its clonogenicity and altered the expression of cancer stem cell (CSC) markers and factors involved in epithelial-to-mesenchymal transition (EMT).
View Article and Find Full Text PDFBMC Plant Biol
January 2025
College of Life Science, Henan Agricultural University, Zhengzhou, China.
Background: Assessing the current status and identifying the mechanisms threatening endangered plants are significant challenges and fundamental to biodiversity conservation, particularly for protecting Tertiary relict trees and plant species with extremely small populations (PSESP). Ulmus elongata (Ulmus, Ulmaceae) with high values for the ornamental application, is a Tertiary relict tree species and one of the members from PSESP in China. Currently, the wild populations of U.
View Article and Find Full Text PDFNature
January 2025
National Disease Research Interchange, Philadelphia, PA, USA.
Many human diseases are the result of early developmental defects. As most paediatric diseases and disorders are rare, children are critically underrepresented in research. Functional genomics studies primarily rely on adult tissues and lack critical cell states in specific developmental windows.
View Article and Find Full Text PDFEur J Hum Genet
January 2025
Institute for Genomic Statistics and Bioinformatics, Bonn, NRW, Germany.
The facial gestalt (overall facial morphology) is a characteristic clinical feature in many genetic disorders that is often essential for suspecting and establishing a specific diagnosis. Therefore, publishing images of individuals affected by pathogenic variants in disease-associated genes has been an important part of scientific communication. Furthermore, medical imaging data is also crucial for teaching and training deep-learning models such as GestaltMatcher.
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