Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Kali Detherage"'
Autor:
Stephen F. Kingsmore, John Lesko, Julie A. Cakici, Laurel K. Willig, Kali Detherage, Aaron Noll, Emily G. Farrow, Byunggil Yoo, Angela Newton, Linda D. Cooley, Josh E Petrikin, Laurie D. Smith, Isabelle Thiffault, Neil A. Miller, Stephanie Fiedler, Carol J Saunders
Publikováno v:
NPJ Genomic Medicine
Optimal management of acutely ill infants with monogenetic diseases requires rapid identification of causative haplotypes. Whole-genome sequencing (WGS) has been shown to identify pathogenic nucleotide variants in such infants. Deletion structural va