| Title |
Exome Sequencing of Only Seven Qataris Identifies Potentially Deleterious Variants in the Qatari Population
|
|---|---|
| Published in |
PLOS ONE, November 2012
|
| DOI | 10.1371/journal.pone.0047614 |
| Pubmed ID | |
| Authors |
Juan L. Rodriguez-Flores, Jennifer Fuller, Neil R. Hackett, Jacqueline Salit, Joel A. Malek, Eman Al-Dous, Lotfi Chouchane, Mahmoud Zirie, Amin Jayoussi, Mai A. Mahmoud, Ronald G. Crystal, Jason G. Mezey |
| Abstract |
The Qatari population, located at the Arabian migration crossroads of African and Eurasia, is comprised of Bedouin, Persian and African genetic subgroups. By deep exome sequencing of only 7 Qataris, including individuals in each subgroup, we identified 2,750 nonsynonymous SNPs predicted to be deleterious, many of which are linked to human health, or are in genes linked to human health. Many of these SNPs were at significantly elevated deleterious allele frequency in Qataris compared to other populations worldwide. Despite the small sample size, SNP allele frequency was highly correlated with a larger Qatari sample. Together, the data demonstrate that exome sequencing of only a small number of individuals can reveal genetic variations with potential health consequences in understudied populations. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Germany | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 36 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 4 | 11% |
| Spain | 1 | 3% |
| France | 1 | 3% |
| Unknown | 30 | 83% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 11 | 31% |
| Researcher | 9 | 25% |
| Student > Master | 3 | 8% |
| Other | 2 | 6% |
| Professor > Associate Professor | 2 | 6% |
| Other | 5 | 14% |
| Unknown | 4 | 11% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 15 | 42% |
| Biochemistry, Genetics and Molecular Biology | 7 | 19% |
| Medicine and Dentistry | 7 | 19% |
| Social Sciences | 2 | 6% |
| Computer Science | 1 | 3% |
| Other | 0 | 0% |
| Unknown | 4 | 11% |