PMC:5069600 / 9812-11016 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/5069600","sourcedb":"PMC","sourceid":"5069600","source_url":"https://www.ncbi.nlm.nih.gov/pmc/5069600","text":"Mutation Screening of the MME Gene in the Additional Patients\nFor the second series, we performed mutation screening of 60 known or candidate CMT‐related genes using the Illumina Miseq platform (Illumina Inc., San Diego, CA, USA) following the protocol described previously by Maeda et al.20 Subsequently, we performed mutation screening of other known CMT and IPN genes, including the MME gene, using WES (Fig 2). For the third series, we performed targeted resequencing of 72 known or candidate CMT‐related genes, including the MME gene, using a custom Ion AmpliSeqM panel (Life Technologies, Carlsbad, CA) (Fig 2 and Supplementary Table 1). Briefly, a custom panel targeting 72 genes was designed using the Ion AmpliSeq Designer tool (http://www.ampliseq.com). Library and template preparation was performed according to manufacturer's instructions. Sequencing was performed on the Ion Proton (Life Technologies) using the Ion PI Chip kit v2 BC. Sequence data were aligned and mapped to the reference sequence, and variants were called using the Torrent variant caller. Variants were transferred to the CLC Genomics Workbench 6 software program (CLC bio, Aarhus, Denmark) for annotation and filtering.","divisions":[{"label":"Title","span":{"begin":0,"end":61}}],"tracks":[]}