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<font size="4">A highly annotated whole-genome sequence of a Korean individual</font><br />
<br />
Nature Letter.<br />
<br />
8th July 2009<br />
<br />
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><a href="http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html#B1"><font color="#000080">1, </font></a></sup><sup><a href="http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html#B2"><font color="#000080">2, </font></a></sup><sup><a href="http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html#B3"><font color="#000080">3, </font></a></sup><sup><a href="http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html#B4"><font color="#000080">4</font></a></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" alt="times" 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 million probes. Alignment to the NCBI reference, a composite of several ethnic clades<sup><a href="http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html#B5"><font color="#000080">5, </font></a></sup><sup><a href="http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html#B6"><font color="#000080">6</font></a></sup>, disclosed nearly 3.45 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 />
<a href="http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html">http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html</a><br />
<br />
<font size="4">See also<br />
</font>[[The first Korean human genome]]<br />
[[A korean genome sequence is announced to the public using a Solexa sequencer 2008 12 04]]
<br />
Nature Letter.<br />
<br />
8th July 2009<br />
<br />
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><a href="http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html#B1"><font color="#000080">1, </font></a></sup><sup><a href="http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html#B2"><font color="#000080">2, </font></a></sup><sup><a href="http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html#B3"><font color="#000080">3, </font></a></sup><sup><a href="http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html#B4"><font color="#000080">4</font></a></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" alt="times" 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 million probes. Alignment to the NCBI reference, a composite of several ethnic clades<sup><a href="http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html#B5"><font color="#000080">5, </font></a></sup><sup><a href="http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html#B6"><font color="#000080">6</font></a></sup>, disclosed nearly 3.45 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 />
<a href="http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html">http://www.nature.com/nature/journal/vaop/ncurrent/full/nature08211.html</a><br />
<br />
<font size="4">See also<br />
</font>[[The first Korean human genome]]<br />
[[A korean genome sequence is announced to the public using a Solexa sequencer 2008 12 04]]