Rare disease

- Reference data : ClinVar

https://www.ncbi.nlm.nih.gov/clinvar/

 

- Guideline

: 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology,
https://www.nature.com/articles/gim201530

: 2021 Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG),

https://www.nature.com/articles/s41436-021-01242-6

 

- AI for interpretation by 3billion 

: 2020 Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE,

https://onlinelibrary.wiley.com/doi/10.1111/cge.13848

 

- Reanalysis

: 2019 Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project,

https://doi.org/10.1016/j.ajhg.2019.05.017

: 2018 Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing,

https://doi.org/10.1038/s41431-018-0114-6

 

- Variant interpretation and incidental finding

: 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics,

https://www.nature.com/articles/gim2016190