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We aim to delineate the genetic and clinical features of SCN8A developmental and epileptic encephalopathy.
Pubmed ID: 31675620
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Software for Next-Generation DNA sequencing, Sanger DNA analysis, and RNA sequencing. It contains sequence analysis tools which include reference-guided alignments, de novo assembly, variant calling, and SNP analyses. It has integrated the Cufflinks suite for in-depth transcript analysis and differential gene expression of RNA-Seq data.
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