Article
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Human mutation - 1 Nov 2018
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
Abstract excerpt
Conflict resolution in genomic variant interpretation is a critical step toward improving patient care. Evaluating interpretation discrepancies in copy number variants (CNVs) typically involves assessing overlapping genomic content with focus on genes/regions that may be subject to dosage sensitivity (haploinsufficiency (HI) and/or triplosensitivity (TS)). CNVs containing dosage sensitive genes/regions are...
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