|
| Status |
Public on Feb 18, 2010 |
| Title |
Complete Genomes of a Hunter-Gatherer and a Bantu from Southern Africa |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by genome tiling array
|
| Summary |
The genetic structure of the indigenous hunter-gatherer peoples of Southern Africa, the oldest known lineage of modern man, holds an important key to understanding humanity's early history. Previously sequenced human genomes have been limited to recently diverged populations. Here we present the first complete genome sequences of an indigenous hunter-gatherer from the Kalahari Desert and of a Bantu from Southern Africa, as well as protein-coding regions from an additional three hunter-gatherers from disparate regions of the Kalahari. We characterize the extent of whole-genome and exome diversity among the five men, reporting 1.3 million novel DNA differences genome-wide, and 13,146 novel amino-acid variants. These data allow genetic relationships among Southern African foragers and neighboring agriculturalists to be traced more accurately than was previously possible. Adding the described variants to current databases will facilitate inclusion of Southern Africans in medical research efforts.
|
| |
|
| Overall design |
Copy number differences between NA18507 and KB1 were predicted from the depth of whole-genome shotgun sequence reads. These predictions were then validated using array-CGH using a a genome-wide design as well as a custom design targeted at specific regions of copy number difference
|
| |
|
| Contributor(s) |
Alkan C, Kidd JM, Eichler EE |
| Citation(s) |
20164927 |
| |
| Submission date |
Nov 16, 2009 |
| Last update date |
Mar 21, 2012 |
| Contact name |
Jeffrey M Kidd |
| E-mail(s) |
kiddj@u.washington.edu
|
| Phone |
2066857336
|
| Fax |
2062215795
|
| Organization name |
University of Washington
|
| Department |
Department of Genome Sciences
|
| Lab |
Eichler Lab
|
| Street address |
1705 NE Pacific St
|
| City |
Seattle |
| State/province |
WA |
| ZIP/Postal code |
98195-5065 |
| Country |
USA |
| |
|
| Platforms (2) |
| GPL9681 |
Eichler-NimbleGen Human 135K Custom CNV array |
| GPL9684 |
Eichler-NimbleGen Human 2.1 HD2 CGH chip |
|
| Samples (3) |
|
| Relations |
| BioProject |
PRJNA120543 |
