Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Identifying genetic risk factors for highly heterogeneous disorders like epilepsy remains challenging. Here, we present the largest whole-exome sequencing study of epilepsy to date, with >54,000 human exomes, comprising 20,979 deeply phenotyped patients from multiple genetic ancestry groups with...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak: Epi25 Collaborative, Chen, S, Neale, BM, Berkovic, SF, Kariuki, SM, Newton, CRJC
Formatua: Internet publication
Hizkuntza:English
Argitaratua: 2024