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

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.

Afiliação

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 em En | MEDLINE | ID: mdl-38076939

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: BioRxiv Ano de publicação: 2023 Tipo de documento: Article

Texto completo

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: BioRxiv Ano de publicação: 2023 Tipo de documento: Article