Associated Papers
UNISOM: Unified Somatic Calling and Machine Learning-based Classification Enhance the Discovery of CHIP.
Tian S et al.
Genomics, Proteomics & Bioinformatics, 2025
40300108 (PubMed )
Supplement: qzaf040_supplementary_data.zip › Table_S6.xlsx › Sheet1
Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.
Shelkowitz E et al.
Pediatric Neurology, 2023
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST11-PTEN
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › PTEN
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM4_ESM.xlsx › Information
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
Chen HJ et al.
Human Mutation, 2017
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