Congenital adrenal hyperplasia, Long-read sequencing, Newborn screening, Second-tier screening, Combined screening strategy
Thyroid dysgenesis (TD), WES, NKX6.2, Zebrafish, Wnt/β-Catenin signaling pathway
human papillomavirus, Epidemiological characteristics, Mathematical model, Transmissibility
phenome-wide association study, Genome-wide association study, ultra-low depth genome sequence, Non-invasive prenatal testing, maternal-neonatal comorbidities
mutational signatures, airborne pollutants, early cancer detection, NIPT repurposing, somatic mutagenesis