Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers
- Journal Name, Publication year
- Hum Genet, 2025
- 링크
- http://127.0.0.1:10219/web_control_warning.html?connected=https://link.springer.com/article/10.1007/s00439-025-02726-0&URLHASH=815b6fea16e3558f3f429972ab2e6975102258b481f33f0a0db1eb837d265e1b&PID=1535&AUTH=b1c4fb9c9bc56d064b869ce8b80c1dc8b878844991286a8ed7a8882211c17998
- Paper Title
- Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders
- Journal Name, Publication year
- Human genomics, 2024
- 링크
- https://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00595-8
- Paper Title
- Diagnostic performance of automated streamlined, daily updated, exome analysis in patients with delayed development
- Journal Name, Publication year
- Molecular medicine, 2022
- 링크
- https://molmed.biomedcentral.com/articles/10.1186/s10020-022-00464-x
- Paper Title
- Disease-causing variant recommendation system for clinical genome interpretation with adjusted scores for artefactual variants
- Journal Name, Publication year
- BioRxiv, 2022
- 링크
- https://www.biorxiv.org/content/10.1101/2022.10.12.511857v1.abstract
- Paper Title
- Improving genetic diagnosis by disease‑specifc, ACMG/AMP variant interpretation guidelines for hearing loss
- Journal Name, Publication year
- Scientific reports, 2022
- 링크
- https://www.nature.com/articles/s41598-022-16661-x
