About this Research Topic
The rapid growth in DNA sequencing technology coupled with a decrease in costs has accelerated the discovery of genetic variants. This has led to a greater understanding of genetic markers involved in disease etiology. The recent advances in long-read sequencing technologies provide a greater appreciation of the diversity within the human genome architecture and landscape. It has also paved a new era in population genetics and genomics, making it possible to understand genetic diversity within and among populations. In the wake of large-scale genomic information, it is possible to review practices associated with routinely used clinical biomarkers and reconsider laboratory reference range values.
Clinical thresholds for routinely used biomarkers may differ based on pharmacological intervention, gender, and also ethnicity. Identifying the genetic mechanism underlying this difference can lead to better diagnostic and clinical outcomes for all involved. We invite genetics researchers and clinicians aiming to bridge the gap in understanding laboratory reference range thresholds in relation to genetic variants to publish their research on this special research topic. This includes research aimed at exploring the genetic architecture of disease prognosis such as cardiac and metabolic biomarkers and related studies or methodologies focused on improving the interpretation of genetic, epigenetic, and ethnic determinants from analyses of Single Nucleotide Polymorphisms, SNPs; Insertion/Deletion, Indels; small and large structural variants, SVs; Short tandem repeats, STRs from autosomes, Y-chromosomes, mitochondrial DNA and DNA methylation.
We welcome the submission of Reviews, Original Research, Brief Research Reports, and perspective articles involving cardiac and metabolic biomarker genetics and related studies or methodologies:
Cardiac and metabolic biomarker genetics and epigenetics
Next-generation sequencing of cardiac and metabolic biomarkers.
Population genetics of clinical biomarkers
Biomarker data from pangenomes.
Clinical thresholds for routinely used biomarkers may differ based on pharmacological intervention, gender, and also ethnicity. Identifying the genetic mechanism underlying this difference can lead to better diagnostic and clinical outcomes for all involved. We invite genetics researchers and clinicians aiming to bridge the gap in understanding laboratory reference range thresholds in relation to genetic variants to publish their research on this special research topic. This includes research aimed at exploring the genetic architecture of disease prognosis such as cardiac and metabolic biomarkers and related studies or methodologies focused on improving the interpretation of genetic, epigenetic, and ethnic determinants from analyses of Single Nucleotide Polymorphisms, SNPs; Insertion/Deletion, Indels; small and large structural variants, SVs; Short tandem repeats, STRs from autosomes, Y-chromosomes, mitochondrial DNA and DNA methylation.
We welcome the submission of Reviews, Original Research, Brief Research Reports, and perspective articles involving cardiac and metabolic biomarker genetics and related studies or methodologies:
Cardiac and metabolic biomarker genetics and epigenetics
Next-generation sequencing of cardiac and metabolic biomarkers.
Population genetics of clinical biomarkers
Biomarker data from pangenomes.
Keywords: Biomarkers, Single Nucleotide Polymorphisms, SNPs, Insertion/Deletion, Indels, Small and Large Structural Variants, SVs, Short Tandem Repeats, STRs, Mitochondrial DNA, DNA Methylation
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.
