2.1 Establishment of the NGS panel
Generation of gene-disease association : Monogenic inherited
diseases were collected according to the criteria of covering diseases
that are severe, actionable, and early onset (refer to the result
section), and genes with relatively clear relationship with diseases
were determined based on Online Mendelian Inheritance in Man (OMIM)
database (https://www.omim.org/).
Age of onset : According to the diseases records in OMIM database,
the known minimum onset age of diseases is manually sorted out, which
can be divided into 6 categories: <1 year of age (Infants),
1-3 years of age (Toddlers), 3-6 years of age (Preschoolers), 6-12 years
of age (Middle Childhood), 12-18 years of age (Young Teens and
Teenagers), > 18 years of age (Adulthood).
2.2 Ethical compliance
This study was approved by the Ethics Committee of Children’s Hospital
of Chongqing Medical University (2019-R-171-1). All guardians of
neonates enrolled have signed the informed consent.