Details: targeted genesequencing panelusing nextgenerationsequencing ( forthe 107 genesmentioned in theannexure one)ngs sequencing using > 80 x coverage onillumina, hiseq or xt platforms for all the samples.phred quality score of q30, for >95% of data.it should cover the complete coding segment(cds) of 107 genes given in annexure one,promoter regions of relevant genes and criticalother coding /non-coding pathogenic variants <100bp documented in the clinvar, hgmd, brcaexchange and lovd databases.primary analysis:primary analysis should generate fastq files,fastqc report, bam files. index statistics, and vcffiles. reads may be trimmed as per the qualitycriteria mentioned under sequencing so as to retainonly high-quality data. detailed workflow of theprimary analysis is to be stated in the technical bid.best practices for variant calling should be followed(standards and guidelines for the interpretation andreporting of sequence variants in cancerhttps://doi.org/10.1016%2fj.jmoldx.2016.10.002).in a
Sector: Medical Education