About this Research Topic
Genomic analysis and related molecular analysis technologies undergo rapid advancements, in principle enabling the identification of any genetic alteration potentially implicated in the pathogenesis of diseases and conditions - for germline analyses in pre-conception, prenatal, pediatric and adult settings as well as for the stratification of somatic variants from cancer samples. The huge amount of information and precise genomic data has enormous potential for improved genetic counseling, disease diagnosis, prognostic stratification, accurate treatment selection and therapeutic response monitoring.
While oncological research enjoys a great benefit from the collection and secondary use of the data generated by genome-wide approaches, these technologies frequently encounter obstacles related to their implementation in clinical workflows. Here, the scientific community should carefully collect and analyze available data to document the benefits and potential shortfalls of individual approaches before evaluating the need for technological replacements.
This Research Topic considers the need for clarity around the utility of use of the most recent technologic innovations, and the soundness, novelty and clinical utility of the discoveries produced with them. Our collection aims to collect studies based on the application of the latest genomic and cytogenomic approaches aiming at improving precision medical care. Contributions by experts in the field in the form of original research articles, reviews and short communications are invited. We particularly encourage the submission of papers on cancer discoveries, describing possible innovative strategies or biological targets useful for diagnosis definition and monitoring of the disease to improve patient’s prognosis.
Bioinformatic studies are welcome, however, these should not be based solely on analysis of publicly available datasets such as TCGA. It is essential to have an independent validation cohort for statistically significant confirmation of the findings communicated.
While oncological research enjoys a great benefit from the collection and secondary use of the data generated by genome-wide approaches, these technologies frequently encounter obstacles related to their implementation in clinical workflows. Here, the scientific community should carefully collect and analyze available data to document the benefits and potential shortfalls of individual approaches before evaluating the need for technological replacements.
This Research Topic considers the need for clarity around the utility of use of the most recent technologic innovations, and the soundness, novelty and clinical utility of the discoveries produced with them. Our collection aims to collect studies based on the application of the latest genomic and cytogenomic approaches aiming at improving precision medical care. Contributions by experts in the field in the form of original research articles, reviews and short communications are invited. We particularly encourage the submission of papers on cancer discoveries, describing possible innovative strategies or biological targets useful for diagnosis definition and monitoring of the disease to improve patient’s prognosis.
Bioinformatic studies are welcome, however, these should not be based solely on analysis of publicly available datasets such as TCGA. It is essential to have an independent validation cohort for statistically significant confirmation of the findings communicated.
Keywords: Medical Genetics, Genetic Marker, Next Generation Sequencing, Optical Genome Mapping, Personalized Medicine
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