DEBORAH RITTER to Genome, Human
This is a "connection" page, showing publications DEBORAH RITTER has written about Genome, Human.
Connection Strength
0.981
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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: 0.300
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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: 0.122
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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: 0.122
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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: 0.105
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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: 0.098
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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: 0.098
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Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015 Apr 11; 16:286.
Score: 0.076
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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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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