Tina Pesaran to Databases, Genetic
This is a "connection" page, showing publications Tina Pesaran has written about Databases, Genetic.
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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: 0.230
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ClinGen and Genetic Testing. N Engl J Med. 2015 10; 373(14):1376-7.
Score: 0.123
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants. Am J Hum Genet. 2025 Oct 02; 112(10):2266-2280.
Score: 0.062
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants. Am J Hum Genet. 2024 Nov 07; 111(11):2411-2426.
Score: 0.057
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Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel. Am J Hum Genet. 2024 Sep 05; 111(9):2044-2058.
Score: 0.057
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Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel. Hum Mutat. 2018 11; 39(11):1581-1592.
Score: 0.038
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Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Genet Med. 2017 10; 19(10):1096-1104.
Score: 0.034