References
Sources &
Citations
All claims on this website are supported by peer-reviewed studies, official datasets, and authoritative sources.
1
25 to 30M Americans living with rare diseases
Rare Diseases - NIH Turning Discovery Into Health
National Institutes of Health (NIH) (2025)
"But though such diseases are individually rare, collectively an estimated 25 to 30 million Americans are affected."View Source
2
4 to 5 years average diagnostic delay
Time to diagnosis for a rare disease: managing medical uncertainty
Phillips et al., Orphanet Journal of Rare Diseases (2024)
"People with a rare disease commonly experience long delays from onset of symptoms to diagnosis (average time 4-5 years but often much longer)..."View Source
3
Millions of families navigating rare diseases
Bringing Hope and Healthcare to Millions of Americans with Rare Diseases
Rep. Paul D. Tonko, U.S. House of Representatives (2023)
"An estimated 25-30 million Americans are living with one of these rare diseases... These conditions affect millions of families and impact every community across our country."View Source
4
Transformer models analyze millions of data points in milliseconds
Mixture of Experts explained simply
Louis-Francois Bouchard (WhatsAI) (2024)
"If we... ask you to do [1.8 million million parameter multiplications], it would take... 57,000 years! ... Yet, transformer models do this in milliseconds."View Source
5
Models validated against gold standard clinical datasets
Real-world evaluation of deep learning algorithms to classify functional pathogenic variants
Chow et al., PMC Journal (2023)
"Deep learning models for variant pathogenicity prediction have recently been developed that can independently recapitulate known pathogenicity annotations from gold-standard references such as the expert-curated ClinVar database."View Source
6
Continuous learning with regulatory alignment
Ever-Evolving Regulatory Landscape for AI in Healthcare
Bottini et al., Neurospine Journal (2025)
"The FDA addresses the challenge of continuous learning from the real world in AI systems through its Predetermined Change Control Plans... This plan ensures that any updates or modifications maintain the system's safety and effectiveness."View Source
7
ClinGen as gold standard for variant curation
ClinGen Variant Curation Expert Panel
ClinGen Expert Panel via ClinVar (NIH) (2024)
"The ClinGen VCEPs are highly regarded as the gold-standard for gene-specific variant curation... developed after extensive evaluation of the evidence using the 2015 ACMG/AMP guidelines as a backbone."View Source
8
Interpretations align with ACMG/AMP guidelines
A Practical Guide to Clinical Variant Interpretation
Euformatics (2023)
"Additionally, adhering to industry standards such as ACMG, AMP... guidelines ensures credibility and reliability, making variant interpretation a robust and clinically impactful process."View Source
9
Evidence synthesis from ClinVar, ACMG, and peer reviewed literature
A Practical Guide to Clinical Variant Interpretation
Euformatics (2023)
"ClinVar... collects reports of genetic variants and their clinical significance. It allows you to cross-reference a variant with prior classifications, literature citations, and supporting evidence..."View Source
10
PharmGKB for pharmacogenomic knowledge
PharmGKB, an Integrated Resource of Pharmacogenomic Knowledge
Gong et al., Stanford University (2021)
"The Pharmacogenomics Knowledgebase (PharmGKB) is an integrated online knowledge resource for understanding how genetic variation affects drug response... As of April 2021, the annotated content of PharmGKB spans... 165 clinical guidelines and 784 drug labels."View Source
11
BRCA2 c.5946delT pathogenic classification
ClinVar Miner - BRCA2 c.5946delT submissions
ClinVar Miner, University of Utah (2025)
"BRCA2 c.5946delT (p.Ser1982fs) - a known Ashkenazi Jewish founder mutation (aka 6174delT) - is listed in ClinVar with Total submissions: 78, including multiple clinical labs all reporting it as Pathogenic."View Source
Last verified: December 2025. For questions about our sources, please contact us.