Plasma or Serum (1-5 ml) shipped overnight with refrigerated gel packs or frozen with sufficient dry ice for longer shipment.
Turnaround time: Sample-Data
10-20 business days (more samples, faster TAT).
Paired-end 75 or 150 sequencing on illumina NextSeq. 100-1,000x target coverage.
VCF (Variant Call File). BWA mapping, GATK variant call, Filter for Variant Allele Frequency (1000 genome), Filter for known pathogenic variants (dbSNP) or suspect variants (Frameshift, Stop gain, Stop loss), SIFT score, Polyphen score and associated Clinvar disease names and Clinvar accession numbers.
Additional deliverables: Initial sample QC, Library prep QC, Target enrichment QC, Sequencing reads QC, Coverage and FastQC plots.
myGenomics offers a variety of commercially available cancer genomic capture or library preparation solutions. Some of the cancer gene panels available from Agilent, illumina and Qiagen are listed on cancer genomics page. Please contact us if you do not see your preferred method there. myGenomics specializes in custom target sequencing and can quickly customize the panel built to your specifications.