Ontology highlight
ABSTRACT:
SUBMITTER: Riggs ER
PROVIDER: S-EPMC7374944 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Riggs Erin R ER Nelson Tristan T Merz Andrew A Ackley Todd T Bunke Brian B Collins Christin D CD Collinson Morag N MN Fan Yao-Shan YS Goodenberger McKinsey L ML Golden Denae M DM Haglund-Hazy Linda L Krgovic Danijela D Lamb Allen N AN Lewis Zoe Z Li Guang G Liu Yajuan Y Meck Jeanne J Neufeld-Kaiser Whitney W Runke Cassandra K CK Sanmann Jennifer N JN Stavropoulos Dimitri J DJ Strong Emma E Su Meng M Tayeh Marwan K MK Kokalj Vokac Nadja N Thorland Erik C EC Andersen Erica E Martin Christa L CL
Human mutation 20181101 11
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 generally interpreted as "likely pathogenic" (LP) or "pathogenic" (P), and CNVs involving ...[more]