WGS (NGS)

ʻO ka hoʻonohonoho hou ʻana o ka genome holoʻokoʻa me Illumina a i ʻole DNBSEQ kahi ʻano hana kaulana no ka ʻike ʻana i nā ʻano genomic, me nā polymorphisms nucleotide hoʻokahi (SNPs), nā ʻano hoʻonohonoho (SVs), a me nā ʻano helu kope (CNVs). Hoʻolaha maʻalahi ʻia ka pipeline BMKCloud WGS (NGS) i kekahi mau ʻanuʻu, me ka hoʻohana ʻana i kahi genome kuhikuhi kiʻekiʻe a me ka hoʻopaʻa maikaʻi ʻia e ʻike i nā ʻano genomic. Ma hope o ka kaohi maikaʻi, ua hoʻohālikelike ʻia nā heluhelu i ka genome kuhikuhi a ua ʻike ʻia nā ʻano. Ua wānana ʻia ko lākou hopena hana ma ka hoʻopaʻa ʻana i nā kaʻina coding like (CDS).