Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
比较计算机模拟策略，优先考虑影响 RNA 剪接的稀有基因组变异，以诊断基因组疾病
期刊:Scientific Reports
影响因子:3.8
doi:10.1038/s41598-021-99747-2
Charlie Rowlands, Huw B Thomas, Jenny Lord, Htoo A Wai, Gavin Arno, Glenda Beaman, Panagiotis Sergouniotis, Beatriz Gomes-Silva, Christopher Campbell, Nicole Gossan, Claire Hardcastle, Kevin Webb, Christopher O'Callaghan, Robert A Hirst, Simon Ramsden, Elizabeth Jones, Jill Clayton-Smith, Andrew R W
