About this Research Topic
The last decade has witnessed unprecedented advances in genomic technologies enabling us to sequence multiple genes in a few days and at ever reducing costs: within the scope of current capabilities, the entire genome can be sequenced in 2-3 days at a cost of less than $1000 per genome. These advances have transformed genomic research/healthcare with extraordinary rates of gene discovery and increasing patient access to genomic testing, diagnoses and gene-directed therapies.
This issue of Frontiers in Genetics aims to showcase these advances with contributions from some of the leading genomic researchers and clinicians who, together, are driving forward the changes that are defining a new genomic era.
The issue's “bench to bedside” narrative is achieved through five sections.
1. Emerging approaches to identify disease causing genes in the coding and non-coding space. This section will explore statistical and laboratory methods to identify disease causing variants that have evaded detection through established trio genome/exome sequencing approaches;
2. Genotype-phenotype correlations. We will particularly explore the emerging observation that dual phenotypes can associated with the alteration of different amino acid residues within the same gene;
3. Broadening the phenotype associated with established syndromes. Given that we are increasingly taking a gene agnostic approach to testing, more individuals with atypical presentations associated with disruption of known genes are identified. This section will focus on the newly expanded phenotypes associated with known rare disease genes;
4. Variant interpretation and multi-disciplinary meetings. One of the key issues with a gene agnostic sequencing approach is the identification of variants of uncertain significance. This section will consider new frameworks and multi-disciplinary approaches to variants of uncertain significance;
5. Gene-directed therapies. In the final section of this issue we will consider how identifying a disease-causing germline variant or determining a tumour's (somatic) mutational signature can determine an individualised treatment strategy.
Given the increasing integration of genomic data across healthcare specialties, we believe this “bench to bedside” edition will be relevant, timely and we anticipate will have a broad specialty readership.
This issue of Frontiers in Genetics aims to showcase these advances with contributions from some of the leading genomic researchers and clinicians who, together, are driving forward the changes that are defining a new genomic era.
The issue's “bench to bedside” narrative is achieved through five sections.
1. Emerging approaches to identify disease causing genes in the coding and non-coding space. This section will explore statistical and laboratory methods to identify disease causing variants that have evaded detection through established trio genome/exome sequencing approaches;
2. Genotype-phenotype correlations. We will particularly explore the emerging observation that dual phenotypes can associated with the alteration of different amino acid residues within the same gene;
3. Broadening the phenotype associated with established syndromes. Given that we are increasingly taking a gene agnostic approach to testing, more individuals with atypical presentations associated with disruption of known genes are identified. This section will focus on the newly expanded phenotypes associated with known rare disease genes;
4. Variant interpretation and multi-disciplinary meetings. One of the key issues with a gene agnostic sequencing approach is the identification of variants of uncertain significance. This section will consider new frameworks and multi-disciplinary approaches to variants of uncertain significance;
5. Gene-directed therapies. In the final section of this issue we will consider how identifying a disease-causing germline variant or determining a tumour's (somatic) mutational signature can determine an individualised treatment strategy.
Given the increasing integration of genomic data across healthcare specialties, we believe this “bench to bedside” edition will be relevant, timely and we anticipate will have a broad specialty readership.
Keywords: genetics, translation, therapies, diagnoses, genomic medicine, genomics, clinical genomics, variant, disease variant, genotype, phenotype, sequencing, patient management
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.
