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- W4381597388 endingPage "106208" @default.
- W4381597388 startingPage "106208" @default.
- W4381597388 abstract "Lesional epilepsy is a common and severe disease commonly associated with malformations of cortical development, including focal cortical dysplasia and hemimegalencephaly. Recent advances in sequencing and variant calling technologies have identified several genetic causes, including both short/single nucleotide and structural somatic variation. In this review, we aim to provide a comprehensive overview of the methodological advancements in this field while highlighting the unresolved technological and computational challenges that persist, including ultra-low variant allele fractions in bulk tissue, low availability of paired control samples, spatial variability of mutational burden within the lesion, and the issue of false-positive calls and validation procedures. Information from genetic testing in focal epilepsy may be integrated into clinical care to inform histopathological diagnosis, postoperative prognosis, and candidate precision therapies." @default.
- W4381597388 created "2023-06-23" @default.
- W4381597388 creator A5010212767 @default.
- W4381597388 creator A5050491303 @default.
- W4381597388 creator A5087743214 @default.
- W4381597388 date "2023-06-01" @default.
- W4381597388 modified "2023-09-27" @default.
- W4381597388 title "Technological and computational approaches to detect somatic mosaicism in epilepsy" @default.
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