Skip to content

NGS gene panel description from .bed file into PALGA style table.

Notifications You must be signed in to change notification settings

igarcia17/NGSpaneldescription

Folders and files

NameName
Last commit message
Last commit date

Latest commit

 

History

24 Commits
 
 
 
 
 
 
 
 
 
 

Repository files navigation

NGSpaneldescription

NGS gene panel description from .bed file into PALGA style table

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.

About

NGS gene panel description from .bed file into PALGA style table.

Resources

Stars

Watchers

Forks

Packages

No packages published