Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.

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作者： Logan C,Walker ^[1] ; Miguel de la,Hoya ^[2] ; George A R,Wiggins ^[1] ; Amanda,Lindy ^[3] ; Lisa M,Vincent ^[4] ; Michael T,Parsons ^[5] ; Daffodil M,Canson ^[5] ; Dana,Bis-Brewer ^[3] ; Ashley,Cass ^[6] ; Alexander,Tchourbanov ^[6] ; Heather,Zimmermann ^[6] ; Alicia B,Byrne ^[7] ; Tina,Pesaran ^[6] ; Rachid,Karam ^[6] ; Steven M,Harrison ^[8] ; Amanda B,Spurdle ^[9] ; ClinGen Sequence Variant Interpretation Working Group

作者单位： Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand. ^[1] Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain. ^[2] GeneDx, Gaithersburg, MD, USA. ^[3] Natera, Austin, TX, USA. ^[4] Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. ^[5] Ambry Genetics, Aliso Viejo, CA, USA. ^[6] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. ^[7] Ambry Genetics, Aliso Viejo, CA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address: sharriso@broadinstitute.org. ^[8] Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia; Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia. ^[9]

关键词 ACMG/AMP codes BP4 BP7 ClinGen PP3 PS1 PVS1 RNA splicing variant classification