Associated Papers
Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.
Chow RD et al.
Npj Precision Oncology, 2024
39427061 (PubMed )
Supplement: 41698_2024_710_MOESM2_ESM.xlsx › S3
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_2.xlsx › Sheet1
Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.
Gemović B et al.
Plos One, 2021
33395407 (PubMed )
Supplement: pone.0244948.s001.pdf
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL1
Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.
Pinto P et al.
Breast Cancer Research and Treatment, 2016
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