The primary goal of the Epi4K Center Without Walls is to increase understanding of the genetic basis of human epilepsy in order to improve the well-being of patients and family members living with these disorders. This improvement will come in the form of better diagnostics, treatments and cures. To accomplish this goal, Epi4K aims to analyze the genomes of a large number of well-phenotyped epilepsy patients and families collected by investigators from several major research groups. The specific goals of this core (3 of 7 - Sequencing, Biostatistics, and Bioinformatics Core) are to 1) sequence and annotate 4,000 genomes, 2) develop computational procedures for calling CNVs in whole exome data, 3) identify and prioritize variants of interest for all three projects, 4) conduct follow up genotypin analyses in a cohort of additional cases and controls, and 5) quickly and efficiently share data among the Epi4K consortium.
Epilepsy is one of the most common human neurological disorders, affecting 3% of the population. Although it is clear that there is a strong genetic component for epilepsy, there are still only a few genes known. The Epi4K project will identify new genes and genetic pathways in epilepsy and will directly benefit individuals with epilepsy and their families through improved diagnostic, prognostic and recurrence risk information. Disclaimer: Please note that the following critiques were prepared by the reviewers prior to the Study Section meeting and are provided in an essentially unedited form. While there is opportunity for the reviewers to update or revise their written evaluation, based upon the group's discussion, there is no guarantee that individual critiques have been updated subsequent to the discussion at the meeting. Therefore, the critiques may not fully reflect the final opinions of th individual reviewers at the close of group discussion or the final majority opinion of the group. Thus the Resume and Summary of Discussion is the final word on what the reviewers actually considered critical at the meeting.
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|Broix, LoÃ¯c; Jagline, HÃ©lÃ¨ne; L Ivanova, Ekaterina et al. (2016) Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. Nat Genet 48:1349-1358|
|Epi4K Consortium. Electronic address: email@example.com; Epi4K Consortium (2016) De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. Am J Hum Genet 99:287-98|
|EpiPM Consortium (2015) A roadmap for precision medicine in the epilepsies. Lancet Neurol 14:1219-28|
|Zhu, Xiaolin; Petrovski, SlavÃ©; Xie, Pingxing et al. (2015) Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. Genet Med 17:774-81|
|Petrovski, SlavÃ©; Gussow, Ayal B; Wang, Quanli et al. (2015) The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity. PLoS Genet 11:e1005492|
|Epilepsy Phenome/Genome Project Epi4K Consortium (2015) Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy. Ann Neurol 78:323-8|
|Liu, Yongzhuang; Li, Bingshan; Tan, Renjie et al. (2014) A gradient-boosting approach for filtering de novo mutations in parent-offspring trios. Bioinformatics 30:1830-6|
|GÃ³mez-Herreros, Fernando; Schuurs-Hoeijmakers, Janneke H M; McCormack, Mark et al. (2014) TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function. Nat Genet 46:516-21|
|Mousallem, Talal; Yang, Jialong; Urban, Thomas J et al. (2014) A nonsense mutation in IKBKB causes combined immunodeficiency. Blood 124:2046-50|
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