Associated Papers
Profiling BRCA1-BRCT interactions and their functional relevance at amino acid resolution.
Mangkusaputra V et al.
Nucleic Acids Research, 2025
40966517 (PubMed )
Supplement: gkaf848_supplemental_files.zip › Sup_table_2___ABX_CtIP_complete_count_and_scores.xlsx › BRCT3_ABX
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R et al.
Human Mutation, 2022
36273432 (PubMed )
Supplement: HUMU-43-2308-s002.xlsx › Feuil1
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Rowlands C et al.
Scientific Reports, 2021
34663891 (PubMed )
Supplement: 41598_2021_99747_MOESM2_ESM.xlsx › Table-S1-modified
Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.
Ozgencil M et al.
Plos One, 2021
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32123317 (PubMed )
Supplement: 41436_2020_766_MOESM3_ESM.xlsx › Variant_summary
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