BMC Genomic Data is calling for submissions to our Collection entitled Genomics of hereditary diseases. This collection seeks to advance our understanding of the genetic underpinnings of hereditary diseases in humans.
Genomic technologies have revolutionized our ability to study hereditary diseases. By sequencing the entire genome or specific regions of interest, researchers can identify genetic variants associated with disease susceptibility, progression, and response to treatment. Moreover, advances in bioinformatics and computational biology have enabled the analysis of large-scale genomic datasets, uncovering novel genetic insights into hereditary diseases.
Continuing to advance our collective understanding of the genomics of hereditary diseases is important for several reasons. Firstly, it allows us to decipher the genetic mechanism underlying these diseases, paving the way for early detection, personalized treatment strategies, and even preventive measures. Research into the genomics of hereditary diseases has already led to significant breakthroughs, such as the identification of disease-causing genetic variants, the development of genetic screening tests for at-risk individuals, and the discovery of targeted therapies that specifically address the underlying genetic abnormalities. Looking ahead, we anticipate the refinement of existing diagnostic tools and therapeutic interventions, as well as the emergence of novel approaches that harness the power of genomics, artificial intelligence, and precision medicine. By unraveling the complexities of hereditary diseases at the genetic level, we can envision a future where personalized genomic medicine becomes a cornerstone of healthcare, offering tailored solutions that improve outcomes and quality of life for individuals affected by these conditions.
This Collection aims to provide a platform for researchers to showcase their latest findings, methodologies, and insights in this rapidly evolving field. We invite contributions that examine various aspects of hereditary diseases from a genomic perspective, including but not limited to:
- Genomic approaches to risk assessment
- Chromosomal anomalies in hereditary diseases
- Hereditary cancer syndromes
- Genomic approaches to neurological hereditary diseases
- Pharmacogenomics of hereditary disorders
- Genomic approaches for studying disease inheritance patterns
- Genomic insights into multifactorial hereditary diseases
- Epigenetics and hereditary disease susceptibility
- Genomic epidemiology and population genetics of hereditary diseases
- Genomics of complex diseases
For this collection we will consider research articles and data notes. However, studies reanalysing published data sets will not be considered.
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