ECNano: A cost-effective workflow for target enrichment sequencing and accurate variant calling on 4800 clinically significant genes using a single MinION flowcell.
Amy Wing-Sze LeungHenry Chi-Ming LeungChak-Lim WongZhen-Xian ZhengWui-Wang LuiHo-Ming LukIvan Fai-Man LoRuibang LuoTak-Wah LamPublished in: BMC medical genomics (2022)
We presented ECNano, an out-of-the-box workflow comprising (1) a wet-lab protocol for ONT target enrichment sequencing and (2) a downstream variant detection workflow, Clair-ensemble. The workflow is cost-effective, with a short turnaround time for high accuracy variant calling in 4800 clinically significant genes and regions using a single MinION flowcell. The long-read exon captured data has potential for further development, promoting the application of long-read sequencing in personalized disease treatment and risk prediction.
Keyphrases
- electronic health record
- single cell
- genome wide
- single molecule
- randomized controlled trial
- transcription factor
- bioinformatics analysis
- genome wide identification
- high resolution
- gene expression
- risk assessment
- mass spectrometry
- climate change
- convolutional neural network
- label free
- sensitive detection
- neural network
- loop mediated isothermal amplification