The road towards data integration in human genomics: players, steps and interactions
A Bernasconi, A Canakoglu… - Briefings in …, 2021 - academic.oup.com
Thousands of new experimental datasets are becoming available every day; in many cases,
they are produced within the scope of large cooperative efforts, involving a variety of …
they are produced within the scope of large cooperative efforts, involving a variety of …
GeCoAgent: a conversational agent for empowering genomic data extraction and analysis
With the availability of reliable and low-cost DNA sequencing, human genomics is relevant
to a growing number of end-users, including biologists and clinicians. Typical interactions …
to a growing number of end-users, including biologists and clinicians. Typical interactions …
GeMI: interactive interface for transformer-based Genomic Metadata Integration
Abstract The Gene Expression Omnibus (GEO) is a public archive containing> 4 million
digital samples from functional genomics experiments collected over almost two decades …
digital samples from functional genomics experiments collected over almost two decades …
[HTML][HTML] Data quality-aware genomic data integration
A Bernasconi - Computer Methods and Programs in Biomedicine …, 2021 - Elsevier
Genomic data are growing at unprecedented pace, along with new protocols, update
polices, formats and guidelines, terminologies and ontologies, which are made available …
polices, formats and guidelines, terminologies and ontologies, which are made available …
The challenge of managing the evolution of genomics data over time: a conceptual model-based approach
Background Precision medicine is a promising approach that has revolutionized disease
prevention and individualized treatment. The DELFOS oracle is a model-driven genomics …
prevention and individualized treatment. The DELFOS oracle is a model-driven genomics …
A comprehensive approach for the conceptual modeling of genomic data
The human genome is traditionally represented as a DNA sequence of three billion base
pairs. However, its intricacies are captured by many more complex signals, representing …
pairs. However, its intricacies are captured by many more complex signals, representing …
[HTML][HTML] PoliViews: A comprehensive and modular approach to the conceptual modeling of genomic data
The human genome complexity is captured by many signals, representing for instance DNA
variations, the expression of gene activity, or DNA's structural rearrangements; a rich set of …
variations, the expression of gene activity, or DNA's structural rearrangements; a rich set of …
Improving NoSQL storage schema based on Z-curve for spatial vector data
D Zhang, Y Wang, Z Liu, S Dai - IEEE Access, 2019 - ieeexplore.ieee.org
NoSQL database can provide massive, high concurrency, and scalable services for storing
different types of data. HBase, a type of NoSQL database, in which columns are grouped …
different types of data. HBase, a type of NoSQL database, in which columns are grouped …
Conceptual modelling for life sciences based on systemist foundations
Background All aspects of our society, including the life sciences, need a mechanism for
people working within them to represent the concepts they employ to carry out their …
people working within them to represent the concepts they employ to carry out their …
Processing genome-wide association studies within a repository of heterogeneous genomic datasets
A Bernasconi, A Canakoglu, F Comolli - BMC genomic data, 2023 - Springer
Abstract Background Genome Wide Association Studies (GWAS) are based on the
observation of genome-wide sets of genetic variants–typically single-nucleotide …
observation of genome-wide sets of genetic variants–typically single-nucleotide …