التفاصيل البيبلوغرافية
| العنوان: |
A highly annotated whole-genome sequence of a Korean individual. |
| المؤلفون: |
Jong-Il Kim, Young Seok Ju, Hansoo Park, Sheehyun Kim, Seonwook Lee, Jae-Hyuk Yi, Mudge, Joann, Miller, Neil A., Dongwan Hong, Bell, Callum J., Hye-Sun Kim, In-Soon Chung, Woo-Chung Lee, Ji-Sun Lee, Seung-Hyun Seo, Ji-Young Yun, Hyun Nyun Woo, Heewook Lee, Dongwhan Suh, Seungbok Lee |
| المصدر: |
Nature; 8/20/2009, Vol. 460 Issue 7258, p1011-1015, 5p, 1 Chart, 3 Graphs |
| مصطلحات موضوعية: |
GENOMES, YORUBA (African people), CELL fusion, GENETIC polymorphisms, HUMAN chromosomes, NUCLEOTIDES, HUMAN gene mapping |
| مستخلص: |
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. 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× 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, 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. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
