Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.

CONCLUSION: This study provides evidence that NGS can yield high success rates in a tertiary pediatric setting, but suggests that the scope of known Mendelian conditions may be considerably broader than currently recognized.
PMID: 30968598 [PubMed - as supplied by publisher]

Source: Molecular Medicine - April 8, 2019 Category: Molecular Biology Authors: Hong S, Wang L, Zhao D, Zhang Y, Chen Y, Tan J, Liang L, Zhu T Tags: Mol Genet Genomic Med Source Type: research