DEBORAH RITTER to Genetic Variation
This is a "connection" page, showing publications DEBORAH RITTER has written about Genetic Variation.
Connection Strength
1.367
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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: 0.338
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Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS. Am J Hum Genet. 2024 Nov 07; 111(11):2427-2443.
Score: 0.146
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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: 0.129
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ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines. Genome Med. 2022 01 18; 14(1):6.
Score: 0.121
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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: 0.107
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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: 0.104
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Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes. Hum Mutat. 2018 11; 39(11):1542-1552.
Score: 0.097
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The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics. Hum Mutat. 2018 11; 39(11):1713-1720.
Score: 0.097
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Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel. Genet Med. 2024 02; 26(2):100992.
Score: 0.034
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Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation. Hum Mutat. 2023; 2023.
Score: 0.033
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A community approach to the cancer-variant-interpretation bottleneck. Nat Cancer. 2022 05; 3(5):522-525.
Score: 0.031
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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: 0.030
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Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures. Am J Hum Genet. 2020 07 02; 107(1):72-82.
Score: 0.027
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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 02; 22(2):245-257.
Score: 0.026
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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: 0.024
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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: 0.023