Clinical validity assessment of genes for inclusion in multi-gene panel testing: A systematic approach.

Tricia N ZionBess WayburnSourat DarabiDevon Lamb ThrushErica D SmithTami JohnstonBrissa MartinKelly D F HagmanMelissa ParraChristian Antolik

Published in: Molecular genetics & genomic medicine (2019)

These results demonstrate the importance of a standardized, evidence-based vetting process to establish CV for genes on MGPTs. Using our proposed system may help to increase the detection rate while mitigating higher VUS rates.

Keyphrases

genome wide identification
genome wide
genome wide analysis
bioinformatics analysis
transcription factor
copy number
loop mediated isothermal amplification
label free
real time pcr