WGS Data Collections: How Do Genomic Databases Transform Medicine?

Król, Zbigniew; Dobosz, Paula; Ślubowska, Antonina; Mroczek, Magdalena

doi:10.3390/ijms24033031

Cited by 3 publications

(5 citation statements)

References 118 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As a result, WGS is emerging as a more comprehensive method for short‐read‐long next‐generation sequencing 38,60,61 . WGS allows for simultaneous genetic diagnostics and pharmacogenetic analyses, including rare/novel variants, to be performed in a single assay 38,61 . Using this new personalized therapy to fine‐tune cellular functions or to target specific targets in noncoding regions could yield tremendous results, providing us with new powerful tools to intervene and treat human diseases 62 …”

Section: Human Genetics Methodologies Used In Drug Developmentmentioning

confidence: 99%

“…Additionally, WGS is able to detect noncoding regions with appropriate coverage. As a result, WGS is emerging as a more comprehensive method for short‐read‐long next‐generation sequencing 38,60,61 . WGS allows for simultaneous genetic diagnostics and pharmacogenetic analyses, including rare/novel variants, to be performed in a single assay 38,61 .…”

Section: Human Genetics Methodologies Used In Drug Developmentmentioning

confidence: 99%

“…38,60,61 WGS allows for simultaneous genetic diagnostics and pharmacogenetic analyses, including rare/novel variants, to be performed in a single assay. 38,61 Using this new personalized therapy to fine-tune cellular functions or to target specific targets in noncoding regions could yield tremendous results, providing us with new powerful tools to intervene and treat human diseases. 62 The completion of the Human Genome Project and rapid advances in histological technologies have enabled precise detection of changes in the genome, transcriptome, and proteome.…”

Section: Whole-genome Sequencing (Wgs)mentioning

confidence: 99%

“…Among them, WGS for rare diseases is well established. In addition, WGS‐based analyses have revealed multiple cancer‐driving events located in noncoding regions of DNA, such as promoters, enhancers or miRNA‐encoding genes 61 . A few examples of relevant targets are given below.…”

Section: Drug Development Of Targets Based On Gwas Wgs and Wes Discov...mentioning

confidence: 99%

See 3 more Smart Citations

Drug development advances in human genetics‐based targets

Zhang,

Yu,

et al. 2024

MedComm

View full text Add to dashboard Cite

Drug development is a long and costly process, with a high degree of uncertainty from the identification of a drug target to its market launch. Targeted drugs supported by human genetic evidence are expected to enter phase II/III clinical trials or be approved for marketing more quickly, speeding up the drug development process. Currently, genetic data and technologies such as genome‐wide association studies (GWAS), whole‐exome sequencing (WES), and whole‐genome sequencing (WGS) have identified and validated many potential molecular targets associated with diseases. This review describes the structure, molecular biology, and drug development of human genetics‐based validated beneficial loss‐of‐function (LOF) mutation targets (target mutations that reduce disease incidence) over the past decade. The feasibility of eight beneficial LOF mutation targets (PCSK9, ANGPTL3, ASGR1, HSD17B13, KHK, CIDEB, GPR75, and INHBE) as targets for drug discovery is mainly emphasized, and their research prospects and challenges are discussed. In conclusion, we expect that this review will inspire more researchers to use human genetics and genomics to support the discovery of novel therapeutic drugs and the direction of clinical development, which will contribute to the development of new drug discovery and drug repurposing.

show abstract

Section: Human Genetics Methodologies Used In Drug Developmentmentioning

confidence: 99%

Section: Human Genetics Methodologies Used In Drug Developmentmentioning

confidence: 99%

Section: Whole-genome Sequencing (Wgs)mentioning

confidence: 99%

Section: Drug Development Of Targets Based On Gwas Wgs and Wes Discov...mentioning

confidence: 99%

See 2 more Smart Citations

Drug development advances in human genetics‐based targets

Zhang,

Yu,

et al. 2024

MedComm

View full text Add to dashboard Cite

show abstract

“…To guide effective treatment decisions, it is imperative to integrate WGS results with clinical data, including patient history, antibiotic susceptibility testing, and treatment outcomes. Achieving this integration can be challenging, necessitating interdisciplinary collaboration and the adoption of standardised data formats [90]. Interlaboratory variability can affect the accuracy of AMR gene detection, making the standardisation of WGS protocols and data analysis pipelines across laboratories vital to ensure consistent and reproducible results [85].…”

Section: Status and Perspectivesmentioning

confidence: 99%

Current Uses and Future Perspectives of Genomic Technologies in Clinical Microbiology

Bianconi,

Aschbacher,

Pagani

2023

Antibiotics

View full text Add to dashboard Cite

Recent advancements in sequencing technology and data analytics have led to a transformative era in pathogen detection and typing. These developments not only expedite the process, but also render it more cost-effective. Genomic analyses of infectious diseases are swiftly becoming the standard for pathogen analysis and control. Additionally, national surveillance systems can derive substantial benefits from genomic data, as they offer profound insights into pathogen epidemiology and the emergence of antimicrobial-resistant strains. Antimicrobial resistance (AMR) is a pressing global public health issue. While clinical laboratories have traditionally relied on culture-based antimicrobial susceptibility testing, the integration of genomic data into AMR analysis holds immense promise. Genomic-based AMR data can furnish swift, consistent, and highly accurate predictions of resistance phenotypes for specific strains or populations, all while contributing invaluable insights for surveillance. Moreover, genome sequencing assumes a pivotal role in the investigation of hospital outbreaks. It aids in the identification of infection sources, unveils genetic connections among isolates, and informs strategies for infection control. The One Health initiative, with its focus on the intricate interconnectedness of humans, animals, and the environment, seeks to develop comprehensive approaches for disease surveillance, control, and prevention. When integrated with epidemiological data from surveillance systems, genomic data can forecast the expansion of bacterial populations and species transmissions. Consequently, this provides profound insights into the evolution and genetic relationships of AMR in pathogens, hosts, and the environment.

show abstract

Data protection legislation in Africa and pathways for enhancing compliance in big data health research

Munung,

Staunton,

Mazibuko

et al. 2024

Health Res Policy Sys

View full text Add to dashboard Cite

Background The increasing availability of large volumes of personal data from diverse sources such as electronic health records, research programmes, commercial genetic testing, national health surveys and wearable devices presents significant opportunities for advancing public health, disease surveillance, personalized medicine and scientific research and innovation. However, this potential is hampered by a lack of clarity related to the processing and sharing of personal health data, particularly across varying national regulatory frameworks. This often leaves researcher stakeholders uncertain about how to navigate issues around secondary data use, repurposing data for different research objectives and cross-border data sharing. Method We analysed 37 data protection legislation across Africa to identify key principles and requirements for processing and sharing of personal health and genetic data in scientific research. On the basis of this analysis, we propose strategies that data science research initiatives in Africa can implement to ensure compliance with data protection laws while effectively reusing and sharing personal data for health research and scientific innovation. Results In many African countries, health and genetic data are categorized as sensitive and subject to stricter protection. Key principles guiding the processing of personal data include confidentiality, non-discrimination, transparency, storage limitation, legitimacy, purpose specification, integrity, fairness, non-excessiveness, accountability and data minimality. The rights of data subjects include the right to be informed, the right of access, the right to rectification, the right to erasure/deletion of data, the right to restrict processing, the right to data portability and the right to seek compensation. Consent and adequacy assessments were the most common legal grounds for cross-border data transfers. However, considerable variation exists in legal requirements for data transfer across countries, potentially creating barriers to collaborative health research across Africa. Conclusions We propose several strategies that data science research initiatives can adopt to align with data protection laws. These include developing a standardized module for safe data flows, using trusted data environments to minimize cross-border transfers, implementing dynamic consent mechanisms to comply with consent specificity and data subject rights and establishing codes of conduct to govern the secondary use of personal data for health research and innovation.

show abstract

WGS Data Collections: How Do Genomic Databases Transform Medicine?

Cited by 3 publications

References 118 publications

Drug development advances in human genetics‐based targets

Drug development advances in human genetics‐based targets

Current Uses and Future Perspectives of Genomic Technologies in Clinical Microbiology

Data protection legislation in Africa and pathways for enhancing compliance in big data health research

Contact Info

Product

Resources

About