Species Publications

Publication details

De novo assembly and phasing of a Korean human genome. (2016) Nature 538, 243-247.
Seo JS, Rhie A, Kim J, Lee S, Sohn MH, Kim CU, Hastie A, Cao H, Yun JY, Kim J, Kuk J, Park GH, Kim J, Ryu H, Kim J, Roh M, Baek J, Hunkapiller MW, Korlach J, Shin JY, Kim C
Abstract: Advances in genome assembly and phasing provide an opportunity to investigate the diploid architecture of the human genome and reveal the full range of structural variation across population groups. Here we report the de novo assembly and haplotype phasing of the Korean individual AK1 (ref. 1) using single-molecule real-time sequencing, next-generation mapping, microfluidics-based linked reads, and bacterial artificial chromosome (BAC) sequencing approaches. Single-molecule sequencing coupled with next-generation mapping generated a highly contiguous assembly, with a contig N50 size of 17.9 Mb and a scaffold N50 size of 44.8 Mb, resolving 8 chromosomal arms into single scaffolds. The de novo assembly, along with local assemblies and spanning long reads, closes 105 and extends into 72 out of 190 euchromatic gaps in the reference genome, adding 1.03 Mb of previously intractable sequence. High concordance between the assembly and paired-end sequences from 62,758 BAC clones provides strong support for the robustness of the assembly. We identify 18,210 structural variants by direct comparison of the assembly with the human reference, identifying thousands of breakpoints that, to our knowledge, have not been reported before. Many of the insertions are reflected in the transcriptome and are shared across the Asian population. We performed haplotype phasing of the assembly with short reads, long reads and linked reads from whole-genome sequencing and with short reads from 31,719 BAC clones, thereby achieving phased blocks with an N50 size of 11.6 Mb. Haplotigs assembled from single-molecule real-time reads assigned to haplotypes on phased blocks covered 89% of genes. The haplotigs accurately characterized the hypervariable major histocompatability complex region as well as demonstrating allele configuration in clinically relevant genes such as CYP2D6. This work presents the most contiguous diploid human genome assembly so far, with extensive investigation of unreported and Asian-specific structural variants, and high-quality haplotyping of clinically relevant alleles for precision medicine.

Homo sapiens Korean Individual AK1

[ Opisthokonta | Metazoa | Eumetazoa | . . .
. . . | Hominidae | Homininae | Homo ]

Homo_sapiens_Korean_Individual_AK1 Picture Source
Taxonomy:Eukaryota | Opisthokonta | Metazoa | Eumetazoa | Bilateria | Deuterostomia | Chordata | Craniata | Vertebrata | Gnathostomata | Teleostomi | Euteleostomi | Sarcopterygii | Dipnotetrapodomorpha | Tetrapoda | Amniota | Mammalia | Theria | Eutheria | Boreoeutheria | Euarchontoglires | Primates | Haplorrhini | Simiiformes | Catarrhini | Hominoidea | Hominidae | Homininae | Homo
Common:human (German: Mensch)
Ncbi Go to NCBI Taxonomy (9606)
Eol Encyclopedia of life
Wiki Wikipedia
Publications:
et. al. Right (2016)
Nature 538, 243-247. Down
et. al. Right (2009)
Nature 460, 1011-1015. Down

Genome files Show genomes


diArk 3.0 Content Info

Species:4870
References:153
Projects:7036
gen DNA Projects:3734
EST/cDNA Projects:849
Publications:1853
link to cymobase
link to scipio
link to www.motorprotein.de
MPI for biophysical chemistry

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