Journal
GENOME MEDICINE
Volume 1, Issue -, Pages -Publisher
BIOMED CENTRAL LTD
DOI: 10.1186/gm42
Keywords
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Categories
Funding
- Charcot-Marie-Tooth Association
- Muscular Dystrophy Association
- March of Dimes
- Texas Children's Hospital General Clinical Research Center
- Baylor College of Medicine Mental Retardation Research Center
- Baylor Intellectual and Developmental Disabilities Research Center
- National Institutes of Health (National Institute of Neurological Disorders and Stroke) [R01 NS27042]
- National Institutes of Health (National Institute of Child Health and Human Development) [P01 HD39420]
- National Institutes of Health (National Eye Institute) [R01 EY1325]
- National Institutes of Health (National Cancer Institute) [P01 CA75719]
- National Institutes of Health (National Institute of Dental and Craniofacial Research) [R01 DE015210]
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It is now becoming generally accepted that a significant amount of human genetic variation is due to structural changes of the genome rather than to base-pair changes in the DNA. As for base-pair changes, knowledge of gene and genome function has been informed by structural alterations that convey clinical phenotypes. Genomic disorders are a class of human conditions that result from structural changes of the human genome that convey traits or susceptibility to traits. The path to the delineation of genomic disorders is intertwined with the evolving technologies that have enabled the resolution of human genome analyses to continue increasing. Similarly, the ability to perform high-resolution human genome analysis has fueled the current and future clinical implementation of such discoveries in the evolving field of genome medicine.
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