主题词：Genomics and Rare Diseases; BRCA gene mutations in cancer; Genomic variations and chromosomal abnormalities; Genetic Associations and Epidemiology; Alzheimer's disease research and treatments; Prenatal Screening and Diagnostics; Cancer Genomics and Diagnostics; Genetics and Neurodevelopmental Disorders; Bioinformatics and Genomic Networks; Ethics in Clinical Research; Genetic factors in colorectal cancer; RNA modifications and cancer; Epigenetics and DNA Methylation; DNA Repair Mechanisms; Autism Spectrum Disorder Research; Cancer-related molecular mechanisms research; Neurogenetic and Muscular Disorders Research; Pharmacogenetics and Drug Metabolism; Amyotrophic Lateral Sclerosis Research; CRISPR and Genetic Engineering; Cardiomyopathy and Myosin Studies; Metabolism and Genetic Disorders; Mitochondrial Function and Pathology; Congenital heart defects research; Fetal and Pediatric Neurological Disorders