Cancer Sosinsky A, Ambrose J, Cross W, et al. Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme[J]. Nature Medicine, 2024: 1-11. Cancer Analysis Technical Information Document Mitchell J, Milite S, Bartram J, et al. Clinical application of tumour-in-normal contamination assessment from whole genome sequencing[J]. Nature Communications, 2024, 15(1): 323. Rare-Disease 100,000 Genomes Project Pilot Investigators. 100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report[J]. New England Journal of Medicine, 2021, 385(20): 1868-1880. Rare Disease Genome Analysis Guide RNAseq Jaramillo Oquendo C, Wai H A, Rich W, et al. RNA-sequencing first approach generates new diagnostic candidates in Mendelian disorders[J]. medRxiv, 2023: 2023.07. 05.23292254. Covid-19 Kousathanas A, Pairo-Castineira E, Rawlik K, et al. Whole-genome sequencing reveals host factors underlying critical COVID-19[J]. Nature, 2022, 607(7917): 97-103. Other Yu C, Lan X, Tao Y, et al. A high-resolution haplotype-resolved Reference panel constructed from the China Kadoorie Biobank Study[J]. Nucleic Acids Research, 2023, 51(21): 11770-11782. Taliun D, Harris D N, Kessler M D, et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program[J]. Nature, 2021, 590(7845): 290-299.