Browsing South African National Bioinformatics Institute (SANBI) by Subject "Biology"
Now showing items 1-6 of 6
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Application of an in silico approach identifies a genetic locus within ITGB2, and its interactions with HSPG2 and FGF9, to be associated with anterior cruciate ligament rupture risk
(Taylor and Francis Group, 2023)We developed a Biomedical Knowledge Graph model that is phenotype and biological functionaware through integrating knowledge from multiple domains in a Neo4j, graph database. All known human genes were assessed through ... -
Application of anin silicoapproach identifies a genetic locus withinITGB2,and itsinteractions withHSPG2 and FGF9,to be associated with anterior cruciateligament rupture risk
(Taylor and Francis Group, 2023)We developed a Biomedical Knowledge Graph model that is phenotype and biological function-aware through integrating knowledge from multiple domains in a Neo4j, graph database. Allknown human genes were assessed through the ... -
The combat-tb workbench: Making powerful Mycobacterium tuberculosis bioinformatics accessible
(American Society for Microbiology, 2022)Whole-genome sequencing (WGS) is a powerful method for detecting drug resistance, genetic diversity, and transmission dynamics of Mycobacterium tuberculosis. Implementation of WGS in public health microbiology laboratories ... -
The contribution of exon-skipping events on chromosome 22 to protein coding diversity
(Cold Spring Harbor Laboratory Press, 2001)Completion of the human genome sequence provides evidence for a gene count with lower bound 30,000–40,000. Significant protein complexity may derive in part from multiple transcript isoforms. Recent EST based studies have ... -
Selection analysis identifies clusters of unusual mutational changes in omicron lineage ba.1 that likely impact spike function
(Oxford University Press, 2022)Among the 30 nonsynonymous nucleotide substitutions in the Omicron S-gene are 13 that have only rarely been seen in other SARS-CoV-2 sequences. These mutations cluster within three functionally important regions of the ... -
SysBiolPGWAS: Simplifying post-GWAS analysis through the use of computational technologies and integration of diverse omics datasets
(Oxford University Press, 2023)Post-genome-wide association studies (pGWAS) analysis is designed to decipher the functional consequences of significant single-nucleotide polymorphisms (SNPs) in the era of GWAS. This can be translated into research ...