Figure Legends
Figure 1. Characteristics of 601 gene-diseases associations. A)
7 categorizations of disease were collected and included to generate the
gene panel. The disease system (B) and onset age (C) for those
gene-disease associations were demonstrated. <1, <1
year of age (Infants); 1-3, 1-3 years of age (Toddlers); 3-6, 3-6 years
of age (Preschoolers); 6-12, 6-12 years of age (Middle Childhood);
12-18, 12-18 years of age (Young Teens and Teenagers); >18,
>18 years of age (Adulthood); UN, unknown.
Figure 2. The overall flowchart of NeoEXOME study.3423 neonates meet the inclusion criteria were enrolled from 5
institutions, 174 were excluded. CQ, Children’s Hospital of Chongqing
Medical University; XZ, Xuzhou Maternal and child Health Care Hospital;
NM, Inner Mongolia Maternal and Child Health Hospital; XB, Northwest
Women and Children’s Medical Center; DL, Dalian Maternal and Child
Health Hospital.
Figure 3. NeoEXOME detection results of positive cases. A) Gene
variants interpretation (risk grade and inheritance patterns) of
neonates with mono-gene change. B) Gene variants interpretation (risk
grade and genetic patterns) of neonates with multi-genes change. C)
Disease system distribution of neonates that were NGS positive. D)
Gene-disease associations’ onset age of neonates that were NGS positive.
E) Top 20 genes distribution of neonates with NGS positive cases. LR,
Low risk; MR, Moderate risk; HR, High risk; AD, Autosomal dominant; AR,
Autosomal recessive; XLD, X-linked dominant; Mito, Mitochondrial; Syns,
Syndrome; ENT, ear, nose, and
throat; Endo, Endocrine; Meta, metabolism.
Figure 4. NGS detection results of carrier. A) Gene variants
characteristics of neonates that were carrier. B) Top 20 genes
distribution of neonates that were carrier.
Figure 5. Comparison of NeoEXOME with other NBS panel. A)
NeoEXOME and Babyseq. B) NeoEXOME
and NC NEXUS. C) NeoEXOME and NESTS.
Supplementary Figure 1. The work flow of our study.