View source for The second Korean human genome


=== <span style="font-size:16px;">A highly annotated whole-genome sequence of a Korean individual</span> ===

<br/> <br/> <span style="font-size:16px;">Recent advances in sequencing technologies have initiated an era of personal genome sequences. To date, human genome sequences have been reported for individuals with ancestry in three distinct geographical regions: a Yoruba African, two individuals of northwest European origin, and a person from China<sup>[http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html#B1 <font color="#000080">1,</font>]</sup><sup>[http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html#B2 <font color="#000080">2,</font>]</sup><sup>[http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html#B3 <font color="#000080">3,</font>]</sup><sup>[http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html#B4 <font color="#000080">4</font>]</sup>. Here we provide a highly annotated, whole-genome sequence for a Korean individual, known as AK1. The genome of AK1 was determined by an exacting, combined approach that included whole-genome shotgun sequencing (27.8<img style="BORDER-BOTTOM: 0px; BORDER-LEFT: 0px; VERTICAL-ALIGN: middle; BORDER-TOP: 0px; BORDER-RIGHT: 0px" src=http://www.nature.com/__chars/math/special/times/black/med/base/glyph.gif> coverage), targeted bacterial artificial chromosome sequencing, and high-resolution comparative genomic hybridization using custom microarrays featuring more than 24&nbsp;million probes. Alignment to the NCBI reference, a composite of several ethnic clades<sup>[http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html#B5 <font color="#000080">5,</font>]</sup><sup>[http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html#B6 <font color="#000080">6</font>]</sup>, disclosed nearly 3.45&nbsp;million single nucleotide polymorphisms (SNPs), including 10,162 non-synonymous SNPs, and 170,202 deletion or insertion polymorphisms (indels). SNP and indel densities were strongly correlated genome-wide. Applying very conservative criteria yielded highly reliable copy number variants for clinical considerations. Potential medical phenotypes were annotated for non-synonymous SNPs, coding domain indels, and structural variants. The integration of several human whole-genome sequences derived from several ethnic groups will assist in understanding genetic ancestry, migration patterns and population bottlenecks.<br/> <br/> [http://kogic.net/index.php?title=The_second_Korean_human_genome&action=edit Link to full article]<br/> <br/> Nature.&nbsp;2009.07.08</span><br/> &nbsp;

==== See also ====

[http://kogic.net/The_first_Korean_genome_sequence_and_analysis:_Full_genome_sequencing_for_a_socio-ethnic_group <span style="font-size:16px;">The&nbsp;</span>]<span style="font-size:16px;">[http://kogic.net/The_first_Korean_genome_sequence_and_analysis:_Full_genome_sequencing_for_a_socio-ethnic_group first Korean human genome]</span><br/> [[A_korean_genome_sequence_is_announced_to_the_public_using_a_Solexa_sequencer_2008_12_04|<span style="font-size:16px;">A korean genome sequence is announced to the public using a Solexa sequencer 2008 12 04</span>]]<br/> <br/> &nbsp;