Publications
Check out research papers published by 3billion and collaborators.
- 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
- Paper Title
- Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity
- Journal Name, Publication year
- Scientific reports, 2021
- 링크
- https://www.nature.com/articles/s41598-021-99007-3
