Detecting copy number variation in next generation sequencing data from diagnostic gene panels.

Ashish Kumar SinghMaren Fridtjofsen OlsenLiss Anne Solberg LavikTrine VoldFinn DrabløsWenche Sjursen

Published in: BMC medical genomics (2021)

With this pipeline as part of our diagnostic practices it is now possible to detect partial, single or multi-exonic, and intragenic CNVs in all genes in our target panel. This has helped our diagnostic lab to expand the portfolio of genes where we offer CNV detection, which previously was limited by the availability of MLPA kits.

Keyphrases

copy number
genome wide
mitochondrial dna
dna methylation
genome wide identification
healthcare
primary care
electronic health record
bioinformatics analysis
transcription factor
gene expression
genome wide analysis
label free
circulating tumor cells