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Genomics pipelines to investigate susceptibility in whole genome data for variant discovery

Over the last few decades, genomics is leading toward audacious future, and has been changing our views about conducting biomedical research, studying diseases, and understanding diversity in our society across the human species. The whole genome and exome sequencing (WGS/WES) are two of the most popular next-generation sequencing (NGS) methodologies that are currently being used … Read More

GVViZ: FAIR bioinformatics platform for variable gene-disease annotation, visualization, and expression analysis

Genetic disposition is considered critical for identifying subjects at high risk for disease development. Investigating disease-causing and high and low expressed genes can support finding the root causes of uncertainties in patient care. However, independent and timely high-throughput next-generation sequencing data analysis is still a challenge for non-computational biologists and geneticists. We present a findable, … Read More

Integrative clinical, genomics and metabolomics data analysis for mainstream precision medicine to investigate COVID-19

Despite significant scientific and medical discoveries, the genetics of novel infectious diseases like COVID-19 remains far from understanding. SARS-CoV-2 is a single-stranded RNA respiratory virus that causes COVID-19 by binding to the ACE2 receptor in the lung and other organs. Understanding its clinical presentation and metabolomic and genetic profile will lead to the discovery of … Read More

Artificial intelligence for better healthcare and precision medicine

Precision medicine is one of the recent and powerful developments in medical care, which has the potential to improve the traditional symptom-driven practice of medicine, allowing earlier interventions using advanced diagnostics and tailoring better and economically personalized treatments. Identifying the best pathway to personalized and population medicine involves the ability to analyze comprehensive patient information … Read More

Human gene and disease associations for clinical-genomics and precision medicine research

We are entering the era of personalized medicine in which an individual’s genetic makeup will eventually determine how a doctor can tailor his or her therapy. Therefore, it is becoming critical to understand the genetic basis of common diseases, for example, which genes predispose and rare genetic variants contribute to diseases, and so on. Our … Read More

100 Years of evolving gene-disease complexities

It’s been over 100 years since the word `gene’ is around and progressively evolving in several scientific directions. Time-to-time technological advancements have heavily revolutionized the field of genomics, especially when it’s about, e.g. triple code development, gene number proposition, genetic mapping, data banks, gene-disease maps, catalogs of human genes and genetic disorders, CRISPR/Cas9, big data … Read More

MAV-clic: management, analysis, and visualization of clinical data

To improve the quality and transition of healthcare, robust data management platforms are necessary to analyze clinical data which are heterogeneous in terms of volume, velocity, variety and veracity. In this Application Note we present a novel multi-database management system (MAV-clic) that complies HIPAA requirements. MAV-clic can handle large scaled data using high performance computing … Read More

Debutant iOS app for clinical-genomics and precision medicine

The last decade has seen a dramatic increase in the availability of scientific data, where human-related biological databases have grown not only in count but also in volume, posing unprecedented challenges in data storage, processing, analysis, exchange, and curation. Next generation sequencing (NGS) advancements have facilitated and accelerated the process of identifying genetic variations. Adopting … Read More