Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

American Journal of Medical Genetics Part C Seminars in Medical Genetics, Journal Year: 2022, Volume and Issue: 190(2), P. 231 - 242

Published: June 1, 2022

Technological advances in both genome sequencing and prenatal imaging are increasing our ability to accurately recognize diagnose Mendelian conditions prenatally. Phenotype-driven early genetic diagnosis of fetal disease can help strategize treatment options clinical preventive measures during the perinatal period, plan utero therapies, inform parental decision-making. Fetal phenotypes diseases often unique at present not well understood; more comprehensive knowledge about computational resources have an enormous potential improve diagnostics translational research. The Human Phenotype Ontology (HPO) has been widely used support research human genetics. To better usage, HPO consortium conducted a series workshops with group domain experts variety medical specialties, diagnostic techniques, as related medicine, including pathology, musculoskeletal anomalies, neurology, genetics, hydrops fetalis, craniofacial malformations, cardiology, neonatal-perinatal placental imaging, bioinformatics. We expanded representation by adding 95 new phenotype terms under Abnormality development or birth (HP:0001197) grouping term, revised definitions, synonyms, annotations for most 152 that existed before beginning this effort. expansion will phenotype-driven exome precision rare care.

Language: Английский

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Adopting additive manufacturing as a cleaner fabrication framework for topologically optimized orthotic devices: Implications over sustainable rehabilitation

Cleaner Engineering and Technology, Journal Year: 2022, Volume and Issue: 10, P. 100559 - 100559

Published: Sept. 8, 2022

The theme of additive manufacturing technology (AMT) is trending among all production sectors, whether it a mass-production industry or concerned with customized parts fabrication. It provides proportionally balanced framework to deal beneficiary's needs stunning overall sustainable performance. This paper describes the potential benefits adopting AMT for topologically orthotic fabrication and suggests medical sector sustainability perspectives. Orthotic devices are used support functionality body part raised due any deficiency deformity provide comfortable healing abetment limb by supportive shock reduction, motion assistance, restriction rehabilitation. study comprises detailed review recent (AM) innovations in advanced orthotics rehabilitation perspective that demands topology optimization (TO) splint A systematic multidisciplinary AM has also been proposed promote as streamlined cleaner approach healthcare, integrating efficient scanning & printing result interpretation network finite element analysis (FEA) based continuously rectifying design database feeding from biomechanical performance evaluations. evidential facts concluded ability fabricate complex geometry ease doing primary attribute instantly patient-specific orthoses/splints/braces lightweight, ventilated, hygienic, appealing, strengthened, biocompatible functionally comfortable. strategic involvement healthcare will mass customization optimized enhance process product at industrial, environmental, financial, resourcial end-user level.

Language: Английский

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OMOP CDM Can Facilitate Data-Driven Studies for Cancer Prediction: A Systematic Review

International Journal of Molecular Sciences, Journal Year: 2022, Volume and Issue: 23(19), P. 11834 - 11834

Published: Oct. 5, 2022

The current generation of sequencing technologies has led to significant advances in identifying novel disease-associated mutations and generated large amounts data a high-throughput manner. Such conjunction with clinical routine are proven be highly useful deriving population-level patient-level predictions, especially the field cancer precision medicine. However, harmonization across multiple national international sites is an essential step for assessment events outcomes associated patients, which currently not adequately addressed. Observational Medical Outcomes Partnership (OMOP) Common Data Model (CDM) internationally established research repository introduced by Health Science Informatics (OHDSI) community overcome this issue. To address needs research, genomic vocabulary extension was 2020 support standardization subsequent analysis. In review, we evaluate potential OMOP CDM applicable prediction how comprehensively can serve AI-based predictions. For this, systematically screened literature articles that use predictive analyses investigated underlying models/tools. Interestingly, found 248 articles, most harmonizing their data, but only 5 make algorithms on OMOP-based fulfill our criteria. studies present multicentric investigations, played role discovering optimizing machine learning (ML)-based models. Ultimately, leads standardized data-driven enables more solid basis utilizing, e.g., ML models reused combined early prediction, diagnosis, improvement personalized care biomarker discovery.

Language: Английский

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The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review

European Journal of Human Genetics, Journal Year: 2022, Volume and Issue: 31(3), P. 282 - 295

Published: Dec. 14, 2022

Abstract Genomic healthcare programmes, both in a research and clinical context, have demonstrated pivotal opportunity to prevent, diagnose, treat rare diseases. However, implementation factors could increase overall costs affect uptake. As well, uncertainties remain regarding effective training, guidelines legislation. The purpose of this rapid evidence review was draw together the available global on genomic testing particularly population-based screening diagnostic programmes implemented at national level, understand range influencing implementation. This involved search terms related genomics, health care. limited peer-reviewed articles published between 2017–2022 found five databases. included thirty drawing sixteen countries. A wide cited as critical successful genomics programmes. These having policy frameworks, regulations, guidelines; decision support tools; access genetic counselling; education training for staff. high implementing integrating into were also often barriers stakeholders. National are complex require generation addressing challenges. findings from highlight that there is strong emphasis engagement among varied stakeholders, including general public, policymakers, governments. Articles emphasised development appropriate policies regulatory frameworks govern healthcare, with focus legislation regulates collection, storage, sharing personal data.

Language: Английский

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The Ontology of Biological Attributes (OBA)—computational traits for the life sciences

Mammalian Genome, Journal Year: 2023, Volume and Issue: 34(3), P. 364 - 378

Published: April 19, 2023

Abstract Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation wild-type or other reference. However, these do not include the phenotypic trait attribute categories required for annotation of genome-wide association studies (GWAS), Quantitative Trait Loci (QTL) mappings any population-focussed measurable data. The integration and biological information with an ever increasing body chemical, environmental data greatly facilitates computational analyses it is also highly relevant biomedical clinical applications. Ontology Biological Attributes (OBA) formalised, species-independent collection interoperable intended fulfil role. OBA standardised representational framework observable attributes are characteristics entities, organisms, parts organisms. has modular design which provides several benefits users integrators, including automated meaningful classification terms computed on basis logical inferences drawn from domain-specific cells, anatomical entities. axioms provide previously missing bridge can computationally link Mendelian GWAS quantitative traits. term components semantic links enable knowledge across specialised research community boundaries, thereby breaking silos.

Language: Английский

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