Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

Erin R. Riggs, Tristan Nelson, Andrew Merz, Todd Ackley, Brian Bunke, Christin D. Collins, Morag N. Collinson, Yao Shan Fan, McKinsey L. Goodenberger, Denae M. Golden, Linda Haglund-Hazy, Danijela Krgovic, Allen N. Lamb, Zoe Lewis, Guang Li, Yajuan Liu, Jeanne Meck, Whitney Neufeld-Kaiser, Cassandra K. Runke, Jennifer N. SanmannDimitri J. Stavropoulos, Emma Strong, Meng Su, Marwan K. Tayeh, Nadja Kokalj Vokac, Erik C. Thorland, Erica Andersen, Christa L. Martin

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

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Medicine & Life Sciences