Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Repositories”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,063 records · Page 59Linked to original sources

Global inequities in hepatitis B and C genomic surveillance revealed through an interactive data integration dashboard.

OBJECTIVES: To assess global disparities in hepatitis B virus (HBV) and hepatitis C virus (HCV) genomic surveillance and to develop an integrated platform that links genomic data with epidemiological burden. STUDY DESIGN: Retrospective observational analysis. METHODS: We reviewed existing viral genomic repositories to identify structural and analytical limitations. Subsequently, we integrated 10 996 HBV and 3533 HCV whole-genome sequences (WGS) from public databases with Global Burden of Disease (GBD) estimates to quantify inequities in genomic surveillance across countries and genotypes. Using these data, we developed the open-access Hepatitis Dashboard, incorporating >14 000 sequences from 141 countries with GBD metrics to evaluate representativeness and sequencing coverage relative to disease burden. RESULTS: Marked inequities in hepatitis genomic surveillance were identified. Despite increasing HBV- and HCV-associated mortality, virus sequence availability remains geographically and genotypically skewed-dominated by China and the United States, with substantial underrepresentation of HBV genotype E and HCV genotypes 5 and 8. Many high-endemic countries in Africa and the Western Pacific remain severely undersampled. We detected circulating antiviral drug-resistance mutations and developed a burden-adjusted sequencing coverage metric, revealing that several high-burden countries, including China, Nigeria and India, are among the least represented in global genomic datasets. Projections to 2030 indicate that neither HBV nor HCV are currently on track to meet WHO elimination targets. CONCLUSIONS: The Hepatitis Dashboard provides an integrated, continuously updated resource that links genomic and epidemiological data to quantify and visualise global surveillance gaps. This analysis highlights a critical disconnect between sequencing efforts and public health needs, which may limit the effectiveness of surveillance-informed strategies to support progress toward WHO 2030 elimination goals. By enabling burden-adjusted prioritisation and longitudinal tracking of genomic coverage, the platform supports evidence-based sampling strategies, equitable resource allocation, and monitoring of global progress toward hepatitis elimination.

Humans↗

Computational systems analysis of developmental toxicity: design, development and implementation of a Birth Defects Systems Manager (BDSM).

Birth defects and developmental disabilities remain an important public health issue worldwide. With the availability of genomic sequences from a growing number of human and model organisms and the rapid expansion of the public repositories holding large-scale gene expression datasets, a computational systems analysis of developmental toxicology can incorporate this vast digital information toward the realization of predictive models for complex disease. Here we describe the initial design, development and implementation of a Birth Defects Systems Manager (BDSM). The project was motivated by the need for a computational-bioinformatics infrastructure to manage vast digital information from functional genomics and for a new knowledge environment specifically engineered for the analysis of developmental processes and toxicities. Proof-of-concept tested BDSM using meta-analysis of gene expression data collected from different laboratories, technology platforms, and study models. The composite dataset incorporated 232 microarray comparisons of RNA samples by single or dual microarray platforms, cDNA or oligonucleotide based probes, and human or mouse sequence information. Preliminary results identified system-level features in the embryonic transcriptome as it reacted to various developmental-teratological stimuli. BDSM is open access through the worldwide web (http://systemsanalysis.louisville.edu/) and can be integrated with other bioinformatics tools and resources to advance the pace of discovery in birth defects research.

Animals↗

When minutes count--the fallacy of accurate time documentation during in-hospital resuscitation.

UNLABELLED: The purpose of this study is to examine the commonly held assumption that time is measured and documented accurately during resuscitation from cardiac arrest in the hospital. METHODS: A two-pronged approach was used to evaluate the accuracy of time documentation and measurement. First, two existing databases-the National Registry of Cardiopulmonary Resuscitation (NRCPR) and a 240-bed hospital's repository of cardiac arrest records-were evaluated for completeness and accuracy of documentation on resuscitation records of times required for calculating the Utstein gold-standard process intervals-recognition of pulselessness to starting cardiopulmonary resuscitation (CPR), delivery of first defibrillation shock, successful intubation, and epinephrine (adrenaline) administration. Second, nurses from a 900-bed hospital were interviewed to determine timepieces used during resuscitations, and timepieces were assessed for coherence and precision. RESULTS: : From the NRCPR database that included 10,689 pulseless cardiac arrests submitted by 176 hospitals, time data for calculating the Utstein intervals were missing for 10.9% of the interventions; negative intervals were calculated for 4%. From 232 consecutive resuscitation records from the 240-bed hospital, 85 records were identified from non-monitored units with staff who provided only CPR. Defibrillation, intubation and epinephrine administration were delayed until after arrival of advanced life support (ALS) responders; unlikely intervals of 0 min from event recognition to these ALS interventions were calculated for 11.5%. Sixty-seven nurses from the 900-bed hospital were interviewed; when documenting information during resuscitations, 21 (31.3%) reported using only patient room clocks, 30 (44.8%) only their watches, and 16 (23.9%) several timepieces. In all in-patient units in the same hospital, 241 timepieces (nurses' and physicians' watches, clocks in patient rooms, defibrillator clocks, central station monitors, and nursing station clocks) were compared to atomic time. The mean absolute time difference from atomic clock was 2.83 min (S.D. +/-5.9 min), median 1.88 min, and range 52.1 min slow to 72.85 min fast. There was no difference among timepieces (P = 0.35). CONCLUSIONS: Missing time data, negative calculated Utstein gold-standard process intervals, unlikely intervals of 0 min from arrest recognition to ALS interventions in units with CPR providers only, use of multiple timepieces for recording time data during the same event, and wide variation in coherence and precision of timepieces bring into question the ability to use time intervals to evaluate resuscitation practice in the hospital. Practitioners, researchers and manufacturers of resuscitation equipment must come together to create a method to collect and document accurately essential resuscitation time elements. Our ability to enhance the resuscitation process and improve patient outcomes requires that this be done.

Documentation↗

Contaminant levels in sediments and asteroids (Asterias rubens L., Echinodermata) from the Belgian coast and Scheldt estuary: polychlorinated biphenyls and heavy metals.

The Southern Bight of the North Sea is particularly exposed to anthropogenic contamination, due to heavy urbanisation and industrialisation of its catchment area. The present work focuses on polychlorinated biphenyl (PCB) and metal contamination of the marine environment along and off the Belgian coast. Its objectives were to compare the concentrations of seven PCB congeners and four heavy metals in the sediments (a repository for anthropogenic contaminants) and in the asteroid Asterias rubens (a recognized bioindicator species). Nineteen sampling stations were considered between the mouth of the Scheldt Estuary and the southern limit of the Belgian coast (asteroids were found in 10 out of the 19 stations). PCB and metal concentrations measured in sediments and asteroids were in the range of values reported in previous studies. Stations under direct influence of the Scheldt were the most impacted by the considered contaminants. Metal concentrations varied according to the grain-size fraction considered. In asteroids, PCBs and metals were found to be selectively distributed among body compartments, and pyloric caeca were found to most efficiently discriminate between sampling stations contamination levels. PCB and metal analysis of sediments provided a physicochemical evaluation of the contamination, whereas analysis of asteroids introduced a biological dimension to the approach by taking into account bioavailability of the contaminants.

Animals↗

Patterns of metal accumulation in osteoderms of the Australian freshwater crocodile, Crocodylus johnstoni.

The concentrations of 15 metals were measured in the osteoderms (dermal bones) of 30 freshwater crocodiles (Crocodylus johnstoni) from a single population in the Lynd River, northeastern Australia (17 degrees 50'S, 144 degrees 20'E), that were well characterised with respect to site fidelity, reproductive status and age. Multiple linear regression analyses were used to determine the effects of crocodile size (snout-vent length, 25-128 cm), age (0.7-62.7 years), gender (male or female) and reproductive status (sexually mature or immature) on osteoderm metal concentrations. Gender and reproductive status were not significant (P > 0.05) co-predictors of the osteoderm concentration of any metal. In contrast, size, age and osteoderm calcium concentration were highly significant (P < 0.001) systematic predictors of the osteoderm concentrations of all metals, except Na and K. Osteoderm metal concentrations were inversely related (P < 0.001) to both size (r(2) = 0.52-0.92) and age (r(2) = 0.52-0.84), but positively related (P < 0.001) to osteoderm calcium concentration (r(2) = 0.67-0.92). Relative to calcium concentration, the rates of metal accumulation in the osteoderms of C. johnstoni were inversely related to the solubility constant (log K(sp)) of the metal as a phosphate; however this relationship was not linear. This finding is consistent with that previously established for the flesh of freshwater bivalves, which like the crocodilian osteoderm, have a calcium phosphate repository in the form of extracellular granules. The constancy of this relationship between rate of metal accumulation and relative solubility for calcium phosphate deposits, despite contrasting Ca accumulation regimes and taxonomic dissimilarity, points to a potential underlying principle that warrants investigation in a greater range of biota. The implications for using the osteoderms of C. johnstoni as an indicator of metal levels in freshwater ecosystems are also discussed.

Age Factors↗

Performance assessment model development and parameter acquisition for analysis of the transport of natural radionuclides in a Mediterranean watershed.

This paper describes the methodology developed to construct a model for predicting the behaviour of the natural radioisotopes of U, Th and Ra in a Mediterranean watershed. The methodology includes the development of the performance assessment model, obtaining water flow and radiological parameters based on experimental data and analysis of results. The model, which accounts for both water flows and mass balances of the radionuclides in a semi-natural environment, provides assessments of radionuclide behaviour in grassland and agricultural soils, rivers and reservoirs, including the processes of radionuclide migration through land and water and interactions between both. From field and laboratory data, it has been possible to obtain parameters for the driving processes considered in the model, water fluxes, source term definition, soil to plant transfer factors and distribution coefficient values. Ranges of parameter values obtained have shown good agreement with published literature data. This general methodological approach was developed to be extended to other radionuclides for the modelling of a biosphere watershed in the context of performance assessment of a High Level Waste (HLW) repository under Mediterranean climate conditions, as well as for forecasting radionuclide transport under similar Mediterranean conditions that will occur in the future in other areas. The application of sensitivity and uncertainty analysis was intended to identify key uncertainties with the aim of setting priorities for future research. The model results for the activity concentration in the reservoir indicate that for (238)U and (230)Th the most relevant parameter is the initial concentrations of the radionuclides in the reservoir sediments. However, for (226)Ra the most important parameter is the precipitation rate over the whole watershed.

Geologic Sediments↗

A methodology for the assessment of rehabilitation success of post mining landscapes--sediment and radionuclide transport at the former Nabarlek uranium mine, Northern Territory, Australia.

Protection of the environment post-mining is an important issue, especially where runoff and erosion can lead to undesirable material leaving post-mining landscapes and contaminating surrounding land and watercourses. Methods for assessment of the environmental impact and long-term behaviour of post-mining landforms based on scientific methodology are needed especially where field data are absent or poor. An appraisal of the former Nabarlek uranium mine was conducted to assess the site from a soil erosion perspective as part of an independent evaluation of overall rehabilitation success. Determination of the gross erosion occurring, sediment discharge to Cooper Creek and the resultant sediment associated radionuclide load in Cooper Creek were the primary objectives of the study. These objectives were achieved through the application of several models using parameter values collected from the site. The study found that the area containing the mill tailings repository is extremely stable and meets the guidelines established for long-term storage of uranium mill tailings. Most other areas on the site are stable; however there are some areas with a high sediment loss. Sediment concentration in Cooper Creek, which drains the site, was found to be within the Australian water quality guidelines for fresh water, however sediment concentrations in tributaries were found to exceed recommended levels. Radionuclide determinations on soil samples showed that the highest specific activities (Bq kg-1) were present on a small (0.44 ha) area with a relatively high erosion rate. This small area contributed the majority of the estimated flux to Cooper Creek of uranium-series radionuclides sorbed or structurally incorporated to eroded soil particles sourced from the mine site. This study provides a methodology for assessment of the erosional stability of such a landscape and consequent impact on water quality, using extensive field data and readily available and well known models and methodologies.

Environmental Monitoring↗

An ecotoxicity assessment of contaminated forest soils from the Kola Peninsula.

Point source copper and nickel contamination emanating from smelters of the Kola Peninsula, NW Russia, has been observed since the mid-1960s. Previous studies have concentrated on the spatial distribution of heavy metals and their effects on forest ecology and indigenous mammals and birds. Soil is perceived as the major repository for the metal pollutants but there is a need to link the soil concentration of pollutants on the Kola Peninsula with biological parameters. Many standard methods currently used in soil ecotoxicology are developed and refined with artificial amendments and rarely modified for use in historically contaminated environments. In this study, forest soils were sampled along a 34 km transect from the smelter and analysed both chemically and with a range of ecologically relevant biological tests. Soil respiration, total nematode count, microbial heterotrophic numbers and minimal inhibitory concentrations to copper and nickel were carried out on bulk soil. The soil pore water was tested with bacterial and fungal bioluminescence-based biosensors. The heterotrophic numbers and their inhibitory concentration showed strong correlation with heavy metal concentrations while decreasing biosensor luminescence was related to increasing copper concentrations present in the pore waters. Overall, there were considerable impacts on some microbial parameters but other measures including respiration and nematode populations were insensitive to pollutant levels. While chemical analysis of heavy metals proved essential in defining the extent of contamination, environmentally relevant ecotoxicological tests complemented these data by demonstrating pollutant impact. Ecotoxicological approaches that study both the bulk soil and pore water may represent the key to understanding the fate of heavy metal in soils.

Agaricales↗

Development of a human iPSC and patient phenotyping resource for preclinical investigations of neurodevelopmental disorders.

In this manuscript, we report the development of a comprehensive resource designed to harness the transformative potential of patient-derived induced pluripotent stem cells (iPSCs) to advance the study of neurodevelopmental disorders (NDDs). Using CRISPR-Cas-mediated genome editing, the Human Neuron Core generated a repository comprising 29 isogenic iPSC pairs, two sex-matched parental control iPSC pairs, and one unmatched patient line representing six monogenic NDDs: Tuberous Sclerosis Complex, PTEN Hamartoma Tumor Syndrome, KCNQ2 Developmental and Epileptic Encephalopathy, FOXG1 Syndrome, Phelan-McDermid Syndrome, and SETBP1 Haploinsufficiency Disorder. In parallel, detailed clinical phenotyping data were collected to enable comparison of cellular phenotypes with clinical severity in future studies. This integrated collection of genetically defined iPSC lines and associated clinical data provides a powerful platform for investigating disease mechanisms and advancing iPSC-based drug discovery for NDDs.

Humans↗

Design and development of oral drugs for the prophylaxis and treatment of smallpox infection.

Smallpox was eradicated by the World Health Organization (WHO) vaccination campaign in the 1970s and the variola virus was restricted to repositories in the United States and Russia. Recently, however, concerns have arisen about the possible existence of variola outside these sites and the potential for using the virus as a weapon of bioterror. The world population now has little residual immunity to smallpox and supplies of the smallpox vaccine are being reconstituted. Large numbers of individuals with various skin diseases or immunosuppression owing to AIDS or organ transplantation medications, or who are pregnant or have heart disease might not be ideal candidates for vaccination with the current live vaccines. It would be useful to have an orally active drug that could be self-administered in case of an outbreak of smallpox.

Acquired Immunodeficiency Syndrome↗

Engineering drought and salinity tolerance in plants: lessons from genome-wide expression profiling in Arabidopsis.

World food security is increasingly dependent on continuous crop improvement and, in particular, the development of crops with increased drought and salinity tolerance. The completed genomic sequence of the model plant Arabidopsis thaliana and the development of whole-genome microarrays, together with increasing repositories of publicly available data and data analysis tools, have opened new avenues to genome-wide systemic analysis of plant stress responses. Here we outline examples of how this full-genome expression profiling can contribute to our understanding of complex stress responses and the identification and evaluation of novel transgenes that could hold the key to the development of commercially viable and sustainable crop plants.

Arabidopsis↗

Comparison and meta-analysis of microarray data: from the bench to the computer desk.

The upcoming availability of public microarray repositories and of large compendia of gene expression information opens up a new realm of possibilities for microarray data analysis. An essential challenge is the efficient integration of microarray data generated by different research groups on different array platforms. This review focuses on the problems associated with this integration, which are: (1) the efficient access to and exchange of microarray data; (2) the validation and comparison of data from different platforms (cDNA and short and long oligonucleotides); and (3) the integrated statistical analysis of multiple data sets.

Databases, Genetic↗

Potential effects of tetrodotoxin exposure to human glial cells postulated using microarray approach.

Sodium channels play an important role in many neurological disorders and also in prostate cancer. Tetrodotoxin (TTX), a blocker of voltage-gated sodium channels has been chiefly used as a molecular probe for the study and characterization of these channels. The regulation of gene expression in response for the exposure of TTX to glial cells which are reported to be involved in neurodegenerative process is poorly understood. Therefore, the present study aims to develop a repository of genes and map it on a few pivotal neurodegenerative pathways to speculate the effect of TTX. Using Affymetrix GeneChip (HG-U133A), we have selected a subset of 692 differentially expressed genes, several of which are-cullin 4A (CUL4A), ubiquitin carrier protein (E2-EPF), proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7) (PSMB8), protein tyrosine phosphatase type IVA (PTP4A1), intercellular adhesion molecule 1 (ICAM1), prostaglandin-endoperoxide synthase 2 (PTGS2), and caspase 1 (CASP1). These genes, which facilitate some of the neurodegenerative pathways, such as ubiquitin, proteasome, inflammation and kinases, were identified to be up- or down-regulated for the TTX treatment. Thus, the selected genes were further examined on ubiquitin-proteasome mediated inflammatory responses pathway as ample evidence for the role of glial cell-mediated inflammation in the neurodegenerative process are available. In summary, our result provides a basic understanding of the differentially expressed genes along with one of the possible pathway which may have been modulated by the exposure of TTX.

Cell Survival↗

[Evaluation of the organization of pre and post transfusion screening of viral infection markers in blood recipients in France in 2001].

In France, data collection related to blood recipient's viral infectious disease markers pre and post-transfusion is a legal requirement for hospitals. Our study aimed to evaluate the actual modalities of this extensive screening in 2001, six years after the Ministry of health issued recommendations. A questionnaire was sent to the haemovigilance correspondents in hospitals having transfused labile blood products (LBP) in 2001. A total of 1463 hospitals having transfused 85% of LBP in France responded. 82.4% of hospitals have written guidelines for pre-transfusion screening of viral markers, mainly for HIV and hepatitis C. A frozen repository storage is held by 23.9% of hospitals with storage durations between 1 to 40 years. 84% of hospitals have written guidelines for post-transfusion screening. The test prescriptions are mostly done by physicians from clinical services and they include in more than 80% of cases, HIV and HCV markers. Only 12% of hospitals recontact the patient in case of a no show. Even though 77.5% of responding hospitals have labile blood products recipients follow up processes, their effectiveness remains quite low, only 16% of recipients having test results available at the hospital.

Alanine Transaminase↗

Examination of gene expression profile of functional human pancreatic islets after 2-week culture.

Islet transplant faces significant challenges, mainly because of the high incidence of primary nonfunction of transplanted islets. Protocol modifications to improve the rate of islet function have included changes in pancreatic preservation and the introduction of short-term culture. Islet culture for 48 to 72 hours has become a standard part of most successful protocols for clinical islet transplantation. We have previously reported gene expression profiles associated with human pancreatic islet function. The aim of this study was to determine the change in gene expression profiles of functional islets after 2 weeks of culture in Memphis-serum free media. Human islets from four isolations were maintained in culture for 14 days in Memphis-serum free media. RNA was extracted from 10000 IEQ for analysis of the gene expression profiles using high-density Affymetrix U133A GeneChips and Genespring software. Islet function was assessed by measurements of human C-peptide at days 7 and 14 posttransplant into NOD-SCID mice. Human C-peptide levels were determined by radioimmunoassay. Our preliminary data showed that genes related to functionality, such as those directed toward insulin processing and secretion, did not vary over 14 days of culture, while genes related to exocrine pancreas and organ architecture and immune-associated genes decreased over time. The ability to maintain islets in culture is an important step toward the development of islet tissue repositories, as well as toward screening human islet preparations for additional pathogens.

Animals↗

Efficacy of BTA stat, cytology, and survivin in bladder cancer surveillance over 5 years in patients with spinal cord injury.

OBJECTIVES: To evaluate three urine markers, BTA stat, cytology, and urinary survivin levels, in the spinal cord injury (SCI) population. The incidence of bladder cancer in patients with SCI is up to 20 times greater than in the general population. However, bladder cancer biomarkers have not been assessed in this population. METHODS: Between April 1999 and April 2004, 457 patients with SCI enrolled at the HealthSouth Harmarville Rehabilitation Spinal Cord Clinic donated their urine to our SCI urine repository. BTA stat tests and the survivin assay were performed according to published standards. Cytology specimens were sent to our cytopathology laboratory for analysis. RESULTS: A total of 1075 urine specimens from 457 patients were analyzed. Of the 1073 BTA stat tests, 119 showed positive reactions and 954 were negative. In the survivin assays, 47 samples had a score of 1, 38 a score of 2, and 9 a score of 3. No cytology specimens were noted to have malignant cells. During the past 5 years, 3 patients were diagnosed with bladder cancer by cystoscopy and treated for superficial disease. For these patients, none of these three tests (BTA stat, survivin assay, and cytology) was positive before the diagnosis of bladder cancer. CONCLUSIONS: The BTA stat, survivin assay, and urine cytology were unable to predict bladder cancer cases in our cohort of patients with SCI. Cystoscopy, therefore, remains the gold standard for bladder cancer surveillance in patients with SCI.

Biomarkers↗

African swine fever virus proteins involved in evading host defence systems.

African swine fever virus (ASFV) can cause an acutely fatal haemorrhagic fever in domestic pigs although in its natural hosts, warthogs, bushpigs and the soft tick vector, Ornithodoros moubata, ASFV causes inapparent persistent infections. The virus is a large, cytoplasmic, double-stranded DNA virus which has a tropism for macrophages. As it is the only member of the Asfarviridae family, ASFV encodes many novel genes not encoded by other virus families. The ability of the virus to persist in its natural hosts and in domestic pigs, which recover from infection with less virulent isolates, shows that the virus has effective mechanisms to evade host defence systems. This review focuses on recent progress made in understanding the function of ASFV-encoded proteins, which are involved in modulating the host response to infection. Growing evidence suggests that a major strategy used by the virus is to modulate signalling pathways in infected macrophages, thus interfering with the expression of a large number of immunomodulatory genes. One potent immunomodulatory protein, A238L, inhibits both activation of the host NFkappaB transcription factor and inhibits calcineurin phosphatase activity. Calcineurin-dependent pathways, including activation of the NFAT transcription factor, are therefore inhibited. Another ASFV-encoded protein, CD2v, resembles the host CD2 protein, which is expressed on T cells and NK cells. This virus protein causes the adsorption of red blood cells around virus-infected cells and extracellular virus particles. Expression of the CD2v protein aids virus dissemination in pigs and the protein also has a role in impairing bystander lymphocyte function. This may be mediated either by a direct interaction of CD2v extracellular domain with ligands on lymphocytes or by an indirect mechanism involving interaction of the CD2v cytoplasmic tail with host proteins involved in signalling or trafficking pathways. Two ASFV proteins, an IAP and a Bcl2 homologue, inhibit apoptosis in infected cells and thus facilitate production of progeny virions. The prediction is that half to two-thirds of the approximately 150 genes encoded by ASFV are not essential for replication in cells but have an important role for virus survival and transmission in its hosts. These genes provide an untapped repository, and will be valuable tools for deciphering not only how the virus manipulates the host response to infection to avoid elimination, but also useful for understanding important host anti-viral mechanisms. In addition, they may provide leads for discovery of novel immunomodulatory drugs.

Adjuvants, Immunologic↗

AI-enabled viral genomics: from virus discovery to host prediction and emerging variant forecasting.

The rapid expansion of metagenomic sequencing has generated vast repositories of viral sequence data that far outpace our capacity to interpret them using conventional approaches. Highly divergent sequences, sparse functional annotation, and taxonomically uneven sampling present fundamental challenges for reference-dependent methods, which lose sensitivity precisely for novel and understudied viruses with high public health relevance. Artificial intelligence (AI) provides a new avenue to address these challenges by enabling predictive inference from viral genomes and proteins while reducing dependence on sequence similarity. In this Review, we discuss representative advances in AI for virus discovery, taxonomic classification and functional annotation, prediction of host range and zoonotic potential, and efforts toward forecasting emerging variants. These advances are transforming viral genomics from a largely descriptive discipline into one with increasing predictive capability. We also critically assess the major challenges that constrain current approaches, including the availability of high-quality and representative datasets, rigorous model evaluation, biological interpretability and responsible governance for increasingly capable AI models.

Artificial Intelligence↗