Long-read sequencing and benchmarking of saliva against blood for genomic variant detection in autism

Autism is highly heritable, yet many cases remain genetically unsolved even after short-read sequencing (SRS). Long-read sequencing (LRS) increases sensitivity for pathogenic variant discovery, especially for complex structural variants (SVs) in repetitive regions missed by SRS. However, LRS largely relies on blood-derived DNA; whether saliva can support genome-wide LRS at population scale remains to be seen. We report the first systematic evaluation of saliva-derived DNA for genome-wide LRS in autism, benchmarking 105 new saliva samples against 68 new blood samples and integrating 189 previou

This content is for informational purposes only and is not medical advice. It is not intended to diagnose, treat, cure, or prevent any disease. Consult a healthcare professional before starting any supplement, treatment, or program — especially if you are pregnant, nursing, taking medication, or managing a health condition.