| Title |
Phen-Gen: combining phenotype and genotype to analyze rare disorders
|
|---|---|
| Published in |
Nature Methods, August 2014
|
| DOI | 10.1038/nmeth.3046 |
| Pubmed ID | |
| Authors |
Asif Javed, Saloni Agrawal, Pauline C Ng |
| Abstract |
We introduce Phen-Gen, a method that combines patients' disease symptoms and sequencing data with prior domain knowledge to identify the causative genes for rare disorders. Simulations revealed that the causal variant was ranked first in 88% of cases when it was a coding variant-a 52% advantage over a genotype-only approach-and Phen-Gen outperformed other existing prediction methods by 13-58%. If disease etiology was unknown, the causal variant was assigned the top rank in 71% of simulations. Phen-Gen is available at http://phen-gen.org/. |
X Demographics
The data shown below were collected from the profiles of 24 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 8 | 33% |
| United Kingdom | 3 | 13% |
| Norway | 1 | 4% |
| Singapore | 1 | 4% |
| Israel | 1 | 4% |
| Unknown | 10 | 42% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 15 | 63% |
| Scientists | 8 | 33% |
| Practitioners (doctors, other healthcare professionals) | 1 | 4% |
Mendeley readers
The data shown below were compiled from readership statistics for 248 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 6 | 2% |
| Brazil | 4 | 2% |
| Italy | 2 | <1% |
| United States | 2 | <1% |
| Spain | 2 | <1% |
| Norway | 1 | <1% |
| Korea, Republic of | 1 | <1% |
| Germany | 1 | <1% |
| Hong Kong | 1 | <1% |
| Other | 6 | 2% |
| Unknown | 222 | 90% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 67 | 27% |
| Student > Ph. D. Student | 59 | 24% |
| Student > Master | 28 | 11% |
| Other | 15 | 6% |
| Professor > Associate Professor | 14 | 6% |
| Other | 33 | 13% |
| Unknown | 32 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 85 | 34% |
| Biochemistry, Genetics and Molecular Biology | 49 | 20% |
| Computer Science | 31 | 13% |
| Medicine and Dentistry | 21 | 8% |
| Neuroscience | 9 | 4% |
| Other | 13 | 5% |
| Unknown | 40 | 16% |
Attention Score in Context
This research output has an Altmetric Attention Score of 27. 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 15 February 2018.
All research outputs
#1,448,856
of 25,706,302 outputs
Outputs from Nature Methods
#1,757
of 5,403 outputs
Outputs of similar age
#14,128
of 241,770 outputs
Outputs of similar age from Nature Methods
#27
of 81 outputs
Altmetric has tracked 25,706,302 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 94th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 5,403 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 36.5. This one has gotten more attention than average, scoring higher than 67% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 241,770 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 94% of its contemporaries.
We're also able to compare this research output to 81 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 66% of its contemporaries.