Summary: Advances in high-throughput DNA sequencing technologies and decreasing costs have fueled the identification of small genetic variants (such as single nucleotide variants and indels) across tumors. Despite efforts to standardize variant formats and vocabularies, many sources of variability persist across databases and computational tools that annotate variants, hindering their integration within cancer genomic analyses. In this context, we present OpenVariant, an easily extendable Python package that facilitates seamless reading, parsing and refinement of diverse input file formats in a customizable structure, all within a single process.
Availability And Implementation: OpenVariant is an open-source package available at https://github.com/bbglab/openvariant. Documentation may be found at https://openvariant.readthedocs.io.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11634536 | PMC |
http://dx.doi.org/10.1093/bioinformatics/btae714 | DOI Listing |
J Chem Inf Model
December 2024
Orion Pharma, Orionintie 1A, 02101 Espoo, Finland.
Given the size of the relevant chemical space for drug discovery, working with fully enumerated compound libraries (especially in three-dimensional (3D)) is unfeasible. Nonenumerated virtual chemical spaces are a practical solution to this issue, where compounds are described as building blocks which are then connected by rules. One concrete example of such is the BioSolveIT chemical spaces file format (.
View Article and Find Full Text PDFBioinformatics
December 2024
Department of Biochemistry and Biophysics, Stockholm University, Science for Life Laboratory, Solna, Sweden.
Motivation: Functional association networks, such as FunCoup, are crucial for analyzing complex gene interactions. To facilitate the analysis and visualization of such genome-wide networks, there is a need for seamless integration with powerful network analysis tools like Cytoscape.
Results: The FunCoup Cytoscape App integrates the FunCoup web service API with Cytoscape, allowing users to visualize and analyze gene interaction networks for 640 species.
Bioinformatics
November 2024
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, 08028, Spain.
Summary: Advances in high-throughput DNA sequencing technologies and decreasing costs have fueled the identification of small genetic variants (such as single nucleotide variants and indels) across tumors. Despite efforts to standardize variant formats and vocabularies, many sources of variability persist across databases and computational tools that annotate variants, hindering their integration within cancer genomic analyses. In this context, we present OpenVariant, an easily extendable Python package that facilitates seamless reading, parsing and refinement of diverse input file formats in a customizable structure, all within a single process.
View Article and Find Full Text PDFForensic Sci Int Genet
December 2024
Institute of Forensic Medicine, Forensic Molecular Biology Department, University of Bern, Murtenstrasse 26, Bern 3008, Switzerland. Electronic address:
Population data in forensic genetics must be checked for a variety of statistical parameters before it can be employed for casework. Several tools exist to perform such tasks; however, it can become challenging to obtain the right results due to the number of software to use and the broad range of input formats. Furthermore, a substantial amount of experience is required to use some of these programs.
View Article and Find Full Text PDFClin Orthop Relat Res
December 2024
Department of Civil and Environmental Engineering, Swanson School of Engineering, University of Pittsburgh, Pittsburgh, PA, USA.
Background: The healthcare sector in the United States has increased its greenhouse gas emissions by 6% since 2010 and today has the highest per capita greenhouse gas emissions globally. Assessing the environmental impact and material use through the methods of life cycle assessment (LCA) and material flow analysis (MFA) of healthcare procedures, products, and processes can aid in developing impactful strategies for reductions, yet such assessments have not been performed in orthopaedic surgery. We conducted an LCA and an MFA on an ACL reconstruction (ACLR).
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!