首页> Human mutation> Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.

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

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第一作者： Erin R,Riggs

第一单位： Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.

作者： Erin R,Riggs ^[1] ; Tristan,Nelson ^[1] ; Andrew,Merz ^[1] ; Todd,Ackley ^[2] ; Brian,Bunke ^[3] ; Christin D,Collins ^[4] ; Morag N,Collinson ^[5] ; Yao-Shan,Fan ^[6] ; McKinsey L,Goodenberger ^[7] ; Denae M,Golden ^[8] ; Linda,Haglund-Hazy ^[2] ; Danijela,Krgovic ^[9] ; Allen N,Lamb ^[10] ; Zoe,Lewis ^[11] ; Guang,Li ^[12] ; Yajuan,Liu ^[13] ; Jeanne,Meck ^[12] ; Whitney,Neufeld-Kaiser ^[13] ; Cassandra K,Runke ^[7] ; Jennifer N,Sanmann ^[8] ; Dimitri J,Stavropoulos ^[14] ; Emma,Strong ^[14] ; Meng,Su ^[6] ; Marwan K,Tayeh ^[2] ; Nadja,Kokalj Vokac ^[9] ; Erik C,Thorland ^[7] ; Erica,Andersen ^[10] ; Christa L,Martin ^[1]

作者单位： Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA. ^[1] Michigan Medical Genetics Laboratories (MMGL), University of Michigan, Ann Arbor, MI, USA. ^[2] EGL Genetics, Tucker, GA, USA. ^[3] EGL Genetics, Tucker, GA, USA.;Perkin Elmer Genomics, Branford, CT, USA. ^[4] Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, Wiltshire, UK. ^[5] University of Miami Miller School of Medicine, Miami, FL, USA. ^[6] Genomics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. ^[7] Human Genetics Laboratory, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA. ^[8] University Medical Centre Maribor, Laboratory of Medical Genetics, Maribor, Slovenia.;Faculty of Medicine, University of Maribor, Maribor, Slovenia. ^[9] ARUP Laboratories, Salt Lake City, UT, USA.;University of Utah, Salt Lake City, UT, USA. ^[10] ARUP Laboratories, Salt Lake City, UT, USA. ^[11] GeneDx, Gaithersburg, MD, USA. ^[12] Clinical Cytogenomics Laboratory, Department of Pathology, University of Washington School of Medicine, Seattle, WA, USA. ^[13] Genome Diagnostics, The Hospital for Sick Children, University of Toronto, Canada. ^[14]

关键词 CNV discrepancy ClinGen ClinVar dosage sensitivity variant interpretation

医学主题词 DNA拷贝数变异(DNA Copy Number Variations);数据库, 遗传学(Databases, Genetic);遗传变异(Genetic Variation);基因组, 人(Genome, Human);人类(Humans)

DOI 10.1002/humu.23610

PMID 30095202

发布时间 2020-07-23

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准确一般字义偏差语意偏离译文作用小提交