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Defining the molecular signatures of Achilles tendinopathy and anterior cruciate ligament ruptures: A whole-exome sequencing approach
(Public Library of Science, 2018)
Musculoskeletal soft tissue injuries are complex phenotypes with genetics being one of
many proposed risk factors. Case-control association studies using the candidate gene
approach have predominately been used to identify ...
Designing a course model for distance-based online bioinformatics training in Africa: the H3ABioNet experience
(Public Library of Science, 2017)
Africa is not unique in its need for basic bioinformatics training for individuals from a diverse
range of academic backgrounds. However, particular logistical challenges in Africa, most
notably access to bioinformatics ...
Semantic interrogation of a multi knowledge domain ontological model of tendinopathy identifies four strong candidate risk genes
(Nature Research, 2016)
Tendinopathy is a multifactorial syndrome characterised by tendon pain and thickening, and impaired
performance during activity. Candidate gene association studies have identified genetic factors
that contribute to ...
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 ...
Exploring new genetic variants within col5a1 intron 4‐exon 5 region and tgf‐β family with risk of anterior cruciate ligament ruptures
(Wiley, 2020)
Variants within genes encoding structural and regulatory elements of ligaments have
been associated with musculoskeletal soft tissue injury risk. The role of intron 4‐exon
5 variants within the α1 chain of type V collagen ...
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 ...