| Title |
Exome sequencing greatly expedites the progressive research of Mendelian diseases
|
|---|---|
| Published in |
Frontiers of Medicine, January 2014
|
| DOI | 10.1007/s11684-014-0303-9 |
| Pubmed ID | |
| Authors |
Xuejun Zhang |
| Abstract |
The advent of whole-exome sequencing (WES) has facilitated the discovery of rare structure and functional genetic variants. Combining exome sequencing with linkage studies is one of the most efficient strategies in searching disease genes for Mendelian diseases. WES has achieved great success in the past three years for Mendelian disease genetics and has identified over 150 new Mendelian disease genes. We illustrate the workflow of exome capture and sequencing to highlight the advantages of WES. We also indicate the progress and limitations of WES that can potentially result in failure to identify disease-causing mutations in part of patients. With an affordable cost, WES is expected to become the most commonly used tool for Mendelian disease gene identification. The variants detected cumulatively from previous WES studies will be widely used in future clinical services. |
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 % |
|---|---|---|
| Israel | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 93 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Germany | 2 | 2% |
| Finland | 1 | 1% |
| France | 1 | 1% |
| Brazil | 1 | 1% |
| Unknown | 88 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 19 | 20% |
| Student > Master | 18 | 19% |
| Researcher | 14 | 15% |
| Other | 9 | 10% |
| Student > Bachelor | 7 | 8% |
| Other | 17 | 18% |
| Unknown | 9 | 10% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 29 | 31% |
| Agricultural and Biological Sciences | 23 | 25% |
| Medicine and Dentistry | 21 | 23% |
| Unspecified | 3 | 3% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 2% |
| Other | 3 | 3% |
| Unknown | 12 | 13% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 06 January 2014.
All research outputs
#18,359,382
of 22,738,543 outputs
Outputs from Frontiers of Medicine
#217
of 341 outputs
Outputs of similar age
#228,807
of 304,530 outputs
Outputs of similar age from Frontiers of Medicine
#5
of 5 outputs
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