DEBORAH RITTER to Neoplasms
This is a "connection" page, showing publications DEBORAH RITTER has written about Neoplasms.
Connection Strength
1.362
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A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen). Cold Spring Harb Mol Case Stud. 2019 10; 5(5).
Score: 0.237
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Somatic cancer variant curation and harmonization through consensus minimum variant level data. Genome Med. 2016 11 04; 8(1):117.
Score: 0.193
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Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing. Genet Med. 2015 Oct; 17(10):831-5.
Score: 0.170
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Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation. Hum Mutat. 2023; 2023.
Score: 0.075
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CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase. Nucleic Acids Res. 2023 01 06; 51(D1):D1230-D1241.
Score: 0.074
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Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is. Database (Oxford). 2023 01 06; 2023.
Score: 0.074
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A community approach to the cancer-variant-interpretation bottleneck. Nat Cancer. 2022 05; 3(5):522-525.
Score: 0.071
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Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions. Cancer Genet. 2022 06; 264-265:50-59.
Score: 0.070
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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). Genet Med. 2022 05; 24(5):986-998.
Score: 0.069
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A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer. Nat Genet. 2020 04; 52(4):448-457.
Score: 0.061
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Standard operating procedure for curation and clinical interpretation of variants in cancer. Genome Med. 2019 11 29; 11(1):76.
Score: 0.060
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Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards. Hum Mutat. 2018 11; 39(11):1721-1732.
Score: 0.055
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Pathogenic Germline Variants in 10,389 Adult Cancers. Cell. 2018 04 05; 173(2):355-370.e14.
Score: 0.053
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ClinGen Cancer Somatic Working Group - standardizing and democratizing access to cancer molecular diagnostic data to drive translational research. Pac Symp Biocomput. 2018; 23:247-258.
Score: 0.052
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Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs. Pharmacogenet Genomics. 2016 06; 26(6):271-9.
Score: 0.047