The University of California Santa Cruz Genome Browser (http://genome.ucsc.edu) offers online public access to a growing database of genomic sequence and annotations for a wide variety of organisms. The Browser is an integrated tool set for visualizing, comparing, analyzing and sharing both publicly available and user-generated genomic data sets. In the past year, the local database has been updated with four new species assemblies, and we anticipate another four will be released by the end of 2011. Further, a large number of annotation tracks have been either added, updated by contributors, or remapped to the latest human reference genome. Among these are new phenotype and disease annotations, UCSC genes, and a major dbSNP update, which required new visualization methods. Growing beyond the local database, this year we have introduced 'track data hubs', which allow the Genome Browser to provide access to remotely located sets of annotations. This feature is designed to significantly extend the number and variety of annotation tracks that are publicly available for visualization and analysis from within our site. We have also introduced several usability features including track search and a context-sensitive menu of options available with a right-click anywhere on the Browser's image.
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http://dx.doi.org/10.1093/nar/gkr1055 | DOI Listing |
Hum Genet
January 2025
Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Refractive error (RE) and myopia are complex polygenic conditions with the majority of genome-wide associated genetic variants in non-exonic regions. Given this, and the onset during childhood, gene-regulation is expected to play an important role in its pathogenesis. This prompted us to explore beyond traditional gene finding approaches.
View Article and Find Full Text PDFMol Biotechnol
December 2024
Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
The development of genome technology has opened new possibilities for comparative primate genomics. Non-human primates share approximately 98% genome similarity and provides vital information into the genetic similarities and variances among species utilized as disease models. DNA study links unique genetic variations to common facial attributes such as nose and eyes.
View Article and Find Full Text PDFPlant Methods
December 2024
Department of Molecular Genetics, Dong-A University, Saha-gu Nakdong-Daero 550 beongil 37, Busan, 49315, Republic of Korea.
Background: Genetic markers are crucial for breeding crops with desired agronomic traits, and their development can be expedited using next-generation sequencing (NGS) and bioinformatics tools. Numerous tools have been developed to design molecular markers, enhancing the convenience, accuracy, and efficiency of molecular breeding. However, these tools primarily focus on genetic variants within short user-input sequences, despite the availability of extensive omics data for genomic variants.
View Article and Find Full Text PDFFront Genet
November 2024
Department of Animal Science, Bioinformatics and Computational Biology Program, Iowa State University, Ames, IA, United States.
Introduction: The agriculture genomics community has numerous data submission standards available, but the standards for describing and storing single-cell (SC, e.g., scRNA- seq) data are comparatively underdeveloped.
View Article and Find Full Text PDFComput Struct Biotechnol J
December 2024
Aix-Marseille Univ, INSERM U1090, TAGC, Marseille 13288, France.
Integrating expression quantitative trait loci (eQTL) data with genome-wide association studies (GWAS) enables the discovery of pleiotropic gene regulatory variants that influence a wide range of traits and disease susceptibilities. However, a comprehensive understanding of the distribution of pleiotropic QTLs across the genome and their phenotypic associations remain limited. In this study, we systematically annotated genetic variants associated with both trait variation and gene expression changes, focusing specifically on the unique characteristics of pleiotropic eQTLs.
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