6533b81ffe1ef96bd127766c
RESEARCH PRODUCT
WIDENING THE SCOPE OF NEXT GENERATION SEQUENCING APPLICATIONS IN PEDIATRIC MEDICAL GENETICS
Mario GiuffrèEttore PiroVincenzo AntonaGiovanni Corsellosubject
Next Generation Sequencing Genetic Diseases Genetic Counseling Mutations Pediatrics Neonatologydescription
Advances in DNA sequencing technologies through Next Generation Sequencing (NGS) approaches have enabled genome-wide discovery of chromosomal copy-number variants and single-nucleotide changes. NGS technologies are rapidly expanding our ability to identify and better define disease-causing mutations and genotype-phenotype correlation. Pediatric patients may particularly benefit from the introduction of these new technologies. Pediatricians must keep up with all these new skills, both in their residency programs as well as in their continuing medical education programs.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2018-01-01 |