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AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.
Kim, Jung; Naqvi, Ammar S; Corbett, Ryan J; Kaufman, Rebecca S; Vaksman, Zalman; Brown, Miguel A; Miller, Daniel P; Phul, Saksham; Geng, Zhuangzhuang; Storm, Phillip B; Resnick, Adam C; Stewart, Douglas R; Rokita, Jo Lynne; Diskin, Sharon J.
Affiliation
  • Kim J; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.
  • Naqvi AS; Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Corbett RJ; Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Kaufman RS; Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Vaksman Z; Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Brown MA; Department of Bioinformatics and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Miller DP; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Phul S; Department of Bioinformatics and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Geng Z; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Storm PB; Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Resnick AC; Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Stewart DR; Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Rokita JL; Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Diskin SJ; Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA.
bioRxiv ; 2023 Dec 01.
Article in En | MEDLINE | ID: mdl-38076939
With the increasing rates of exome and whole genome sequencing, the ability to classify large sets of germline sequencing variants using up-to-date American College of Medical Genetics - Association for Molecular Pathology (ACMG-AMP) criteria is crucial. Here, we present Automated Germline Variant Pathogenicity (AutoGVP), a tool that integrates germline variant pathogenicity annotations from ClinVar and sequence variant classifications from a modified version of InterVar (PVS1 strength adjustments, removal of PP5/BP6). This tool facilitates large-scale, clinically-focused classification of germline sequence variants in a research setting.

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: BioRxiv Year: 2023 Document type: Article Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: BioRxiv Year: 2023 Document type: Article Country of publication: