I-WGS (NGS)

Ukulandelelanisa kwakhona i-genome epheleleyo nge-Illumina okanye i-DNBSEQ yindlela edumileyo yokuchonga ii-genomic variants, kuquka i-single nucleotide polymorphisms (SNPs), ii-structural variants (SVs), kunye nee-copy number variations (CNVs). Umbhobho we-BMKCloud WGS (NGS) usetyenziswa ngokulula ngamanyathelo ambalwa, kusetyenziswa i-reference genome esemgangathweni ophezulu neneenkcukacha ezichanekileyo ukuchonga ii-genomic variants. Emva kolawulo lomgangatho, ii-reads zihambelana ne-reference genome kwaye ii-variants ziyachongwa. Isiphumo sazo sokusebenza siqikelelwa ngokuchaza ii-code sequences ezihambelanayo (CDS).