부산대학교 도서관

We report the sequencing and assembly of a reference genome for the human GM12878 Utah/Ceph cell line using the MinION (Oxford Nanopore Technologies) nanopore sequencer. 91.2 Gb of sequence data, representing [similar]30x theoretical coverage, were produced. Reference-based alignment enabled detection of large structural variants and epigenetic modifications. De novo assembly of nanopore reads alone yielded a contiguous assembly (NG50 [similar]3 Mb). We developed a protocol to generate ultra-long reads (N50 [greater than] 100 kb, read lengths up to 882 kb). Incorporating an additional 5x coverage of these ultra-long reads more than doubled the assembly contiguity (NG50 [similar]6.4 Mb). The final assembled genome was 2,867 million bases in size, covering 85.8% of the reference. Assembly accuracy, after incorporating complementary short-read sequencing data, exceeded 99.8%. Ultra-long reads enabled assembly and phasing of the 4-Mb major histocompatibility complex (MHC) locus in its entirety, measurement of telomere repeat length, and closure of gaps in the reference human genome assembly GRCh38.
Author(s): Miten Jain [1]; Sergey Koren [2]; Karen H Miga [1]; Josh Quick [3]; Arthur C Rand [1]; Thomas A Sasani [4, 5]; John R Tyson [6]; Andrew D Beggs [...]