Rare diseases present an identification problem as much as a biology problem. When a patient phenotype matches no established syndrome, exome and genome-scale sequencing can surface candidate variants in genes not yet linked to any disorder. Twist panels cover established OMIM [Online Mendelian Inheritance in Man] gene sets and support de novo variant discovery in previously uncharacterized regions, giving rare disease researchers the data quality they need to move from sequencing to functional validation.

Carrier screening, prenatal diagnosis, and preimplantation genetic testing all depend on accurate detection of pathogenic variants in known disease genes. Targeted panel sequencing across curated gene sets supports the development and validation of reproductive genetics workflows, from method development to cohort-scale research studies.