WGS (NGS)

ʻO ka holo ʻana o ka genome holoʻokoʻa me Illumina a i ʻole DNBSEQ he ala kaulana ia no ka ʻike ʻana i nā ʻano genomic, me ka nucleotide polymorphisms (SNPs), nā ʻano like ʻole (SVs), a me nā ʻano helu kope (CNVs). Hoʻokomo maʻalahi ka pipeline BMKCloud WGS (NGS) i kekahi mau ʻanuʻu, me ka hoʻohana ʻana i kahi genome kuhikuhi kiʻekiʻe a maikaʻi-annotated e ʻike i nā ʻano genomic. Ma hope o ke kaohi ʻana i ka maikaʻi, hoʻopili ʻia nā heluhelu i ka genome kuhikuhi a ʻike ʻia nā ʻano like ʻole. Kuhi ʻia kā lākou hopena hana ma ka hōʻike ʻana i nā kaʻina coding e pili ana (CDS).