Jon Grant to Genetic Testing
This is a "connection" page, showing publications Jon Grant has written about Genetic Testing.
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Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists. Am J Hum Genet. 2025 Jun 05; 112(6):1479-1488.
Score: 0.172
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Availability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approach. Am J Hum Genet. 2025 Oct 02; 112(10):2281-2294.
Score: 0.044
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Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer. Genet Med. 2025 Nov; 27(11):101565.
Score: 0.044
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Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK). Genet Med. 2025 Feb; 27(2):101305.
Score: 0.041