Inés García Ortiz, Ronald van Eijk Department of Pathology, Leiden University Medical Centre, P.O. Box 9600 L1-Q2300 RC, Leiden, the Netherlands
To describe a gene panel form a .bed file to a description table with gene symbol, RefSeq accession number, coding exon, cDNA coordinates and covered codons, it is necessary to:
- Filter the amplicons with less than 250 reads in at least 10 samples. The average coverage can be calculated with the coverageAverage.js script.
- Obtain a reference exome (see folder).
- Get the exonic regions of the gene panel and associate to gene symbol -> UCSC Genome Browser, intersection of raw .bed file of gene panel with the cds coordinates of reference exome. To get this track, see referenceExome folder
- Run exonic panel and cDNA exome with codons.js to obtain the coding exon, cDNA coordinates and covered codons.
- Run codons.js output with NGSpanelTable.js.
Input specifications of each script are described in themselves.