Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
利用 ClinGen 剂量敏感性图谱解决拷贝数变异差异，可更新 ClinVar 中的临床解释。
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23610
Riggs, Erin R; Nelson, Tristan; Merz, Andrew; Ackley, Todd; Bunke, Brian; Collins, Christin D; Collinson, Morag N; Fan, Yao-Shan; Goodenberger, McKinsey L; Golden, Denae M; Haglund-Hazy, Linda; Krgovic, Danijela; Lamb, Allen N; Lewis, Zoe; Li, Guang; Liu, Yajuan; Meck, Jeanne; Neufeld-Kaiser, Whitney; Runke, Cassandra K; Sanmann, Jennifer N; Stavropoulos, Dimitri J; Strong, Emma; Su, Meng; Tayeh, Marwan K; Kokalj Vokac, Nadja; Thorland, Erik C; Andersen, Erica; Martin, Christa L
