That was the case for Claire Cole and Kris Daly, parents of Millie-Mae, aged two, who has a rare form of epilepsy. They were offered whole genome sequencing last year, after Millie-Mae had been ...

A limited understanding of non-European DNA may hinder genetic testing interpretations, leading to disparities in epilepsy. Whole exome sequencing ... whole genome). The researchers also reported ...

The Patient Access Program aims to address these challenges by increasing access to whole exome sequencing for pediatric epilepsy patients ... than 700,000 exome and genome results that can ...

as the founding partners to its Patient Access Program for pediatric epilepsy, which provides access to whole exome sequencing. In addition to helping patients receive a genetic diagnosis ...

These could include forms of severe epilepsy and unusual cancers ... Dr Emma Baple, who runs the National Rapid Whole Genome Sequencing Service, said it would transform how rare genetic conditions ...