Genomic Technologies to Improve Variation Identification in Undiagnosed Diseases

Human genome variation has increasingly posed challenges and opportunities for patients, medical providers, and an increasing group of stakeholders including advocacy groups, disadvantaged communities, public health experts, and scientists. Here, advances in genomic sequencing and mapping technologies are discussed with particular attention to the increasing ability to detect personal and population genome variation and the potential for accurate integration of variation into health and disease-related care.
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Authors: Tags: Review Article Source Type: research