An Independent Assessment of a Commercial Clinical Interpretation Software Indicates That Software Can Mitigate Variation in Human Assessment
暂无分享,去创建一个
Kathryn D Bungartz | Sheryl K Elkin | J. Fairley | Z. Deans | R. Treacy | Ruth Burton | Eilidh Grieg | James Hayes
[1] O. Griffith,et al. Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC). , 2022, Genetics in medicine : official journal of the American College of Medical Genetics.
[2] O. Griffith,et al. Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC). , 2022, Genetics in medicine : official journal of the American College of Medical Genetics.
[3] S. Yaung,et al. From Information Overload to Actionable Insights: Digital Solutions for Interpreting Cancer Variants from Genomic Testing , 2021, Journal of Molecular Pathology.
[4] Qing Zhou,et al. Comparison of three commercial decision support platforms for matching of next-generation sequencing results with therapies in patients with cancer , 2020, ESMO Open.
[5] Zodwa Dlamini,et al. Artificial intelligence (AI) and big data in cancer and precision oncology , 2020, Computational and structural biotechnology journal.
[6] Larissa V Furtado,et al. Multi-Institutional Evaluation of Interrater Agreement of Variant Classification Based on the 2017 Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Ca , 2020 .
[7] Jie-hong Xie,et al. Challenges of Providing Concordant Interpretation of Somatic Variants in Non-Small Cell Lung Cancer: A Multicenter Study , 2019, Journal of Cancer.
[8] S. Patterson,et al. Utility of the JAX Clinical Knowledgebase in capture and assessment of complex genomic cancer data , 2019, npj Precision Oncology.
[9] V. Kristensen,et al. Somatic EP300-G211S mutations are associated with overall somatic mutational patterns and breast cancer specific survival in triple-negative breast cancer , 2018, Breast Cancer Research and Treatment.
[10] Kathryn D Bungartz,et al. Making the right calls in precision oncology , 2018, Nature Biotechnology.
[11] F. Cabitza,et al. Unintended Consequences of Machine Learning in Medicine , 2017, JAMA.
[12] Moriah H Nissan,et al. OncoKB: A Precision Oncology Knowledge Base. , 2017, JCO precision oncology.
[13] Steven J. M. Jones,et al. CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer , 2017, Nature Genetics.
[14] S. Dewdney,et al. Electronic Records, Registries, and the Development of “Big Data”: Crowd-Sourcing Quality toward Knowledge , 2017, Front. Oncol..
[15] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[16] Ze Li,et al. Crystal Structure of TET2-DNA Complex: Insight into TET-Mediated 5mC Oxidation , 2013, Cell.
[17] D. Barber,et al. CBL Linker Region and RING Finger Mutations Lead to Enhanced Granulocyte-Macrophage Colony-stimulating Factor (GM-CSF) Signaling via Elevated Levels of JAK2 and LYN* , 2013, The Journal of Biological Chemistry.
[18] I. Screpanti,et al. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. , 2010, American journal of human genetics.
[19] R. Larson,et al. Novel Oncogenic Mutations of CBL in Human Acute Myeloid Leukemia That Activate Growth and Survival Pathways Depend on Increased Metabolism* , 2010, The Journal of Biological Chemistry.
[20] M. Ehrich,et al. Mutation profiling in tumor samples using the Sequenom OncoCarta|[trade]| Panel , 2009 .
[21] A. Hall,et al. Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. , 2008, Blood.
[22] Jen‐Kou Lin,et al. Loss of heterozygosity: an independent prognostic factor of colorectal cancer. , 2005, World journal of gastroenterology.
[23] F. Walker,et al. RING finger mutations that abolish c-Cbl-directed polyubiquitination and downregulation of the EGF receptor are insufficient for cell transformation. , 2001, Molecular cell.
[24] W. Langdon,et al. Tumour induction by activated abl involves tyrosine phosphorylation of the product of the cbl oncogene. , 1994, The EMBO journal.
[25] Marilyn M. Li. Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer , 2019 .