WIDENING THE SCOPE OF NEXT GENERATION SEQUENCING APPLICATIONS IN PEDIATRIC MEDICAL GENETICS

Research output: Contribution to journalArticle

Abstract

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.
Original languageEnglish
Pages (from-to)80-81
Number of pages2
JournalEuroMediterranean Biomedical Journal
Volume13
Publication statusPublished - 2018

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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