Advances in technologies for assessing genomic variation and an increasing understanding of the effects of genomic variants on health and disease are driving the transition of genomics from the research laboratory into clinical care. Genomic medicine, or the use of an individual\u27s genomic information as part of their clinical care, is increasingly gaining acceptance in routine practice, including in assessing disease risk in individuals and their families, diagnosing rare and undiagnosed diseases, and improving drug safety and efficacy. We describe the major types and measurement tools of genomic variation that are currently of clinical importance, review approaches to interpreting genomic sequence variants, identify publicly available t...
Genomic variations and phenotypic diversity are closely linked and form the underlying mechanism for...
Collectively, rare genetic disorders affect a substantial portion of the world's population. In most...
Individual reprints of this article are not available. The entire Primer on Medical Genomics will be...
Advances in technologies for assessing genomic variation and an increasing understanding of the effe...
Novel high-throughput sequencing technologies generate largescale genomic data and are used extensiv...
Genome-wide association studies, DNA sequencing studies, and other genomic studies are finding an in...
Targeted genetic testing for certain genetic disorders (for example, chromosomal and monogenic/mende...
The clinical translation of genomic sequencing is hampered by the limited information available to g...
AbstractThe field of medical genomics involves translating high throughput genetic methods to the cl...
Genomics is a complex field that is taking an increasing role in many aspects of healthcare. Genomic...
Context .- Next-generation sequencing performed in a clinical environment must meet clinical standar...
Recent studies have demonstrated the use of genomic data, particularly gene expression signatures, a...
Human genetics has progressed at an unprecedented pace during the past 10 years. DNA microarrays cur...
Genomics, particularly high-throughput sequencing and characterization of expressed human genes, has...
PURPOSE: Genomic test results, regardless of laboratory variant classification, require clinical pra...
Genomic variations and phenotypic diversity are closely linked and form the underlying mechanism for...
Collectively, rare genetic disorders affect a substantial portion of the world's population. In most...
Individual reprints of this article are not available. The entire Primer on Medical Genomics will be...
Advances in technologies for assessing genomic variation and an increasing understanding of the effe...
Novel high-throughput sequencing technologies generate largescale genomic data and are used extensiv...
Genome-wide association studies, DNA sequencing studies, and other genomic studies are finding an in...
Targeted genetic testing for certain genetic disorders (for example, chromosomal and monogenic/mende...
The clinical translation of genomic sequencing is hampered by the limited information available to g...
AbstractThe field of medical genomics involves translating high throughput genetic methods to the cl...
Genomics is a complex field that is taking an increasing role in many aspects of healthcare. Genomic...
Context .- Next-generation sequencing performed in a clinical environment must meet clinical standar...
Recent studies have demonstrated the use of genomic data, particularly gene expression signatures, a...
Human genetics has progressed at an unprecedented pace during the past 10 years. DNA microarrays cur...
Genomics, particularly high-throughput sequencing and characterization of expressed human genes, has...
PURPOSE: Genomic test results, regardless of laboratory variant classification, require clinical pra...
Genomic variations and phenotypic diversity are closely linked and form the underlying mechanism for...
Collectively, rare genetic disorders affect a substantial portion of the world's population. In most...
Individual reprints of this article are not available. The entire Primer on Medical Genomics will be...