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Complete sequencing of expandedSAMD12repeats by long-read sequencing and Cas9-mediated enrichment

29 Jan 2021

Abstract excerpt

A pentanucleotide TTTCA repeat insertion into a polymorphic TTTTA repeat element in SAMD12 causes benign adult familial myoclonic epilepsy. Although the precise determination of the entire SAMD12 repeat sequence is important for molecular diagnosis and research, obtaining this sequence remains challenging when using conventional genomic/genetic methods, and even short-read and long-read next-generation sequencing...

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PMID: 33791773
DOI: 10.1093/brain/awab021

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