AMELIE accelerates the diagnosis of Mendelian cases

AMELIE has read hundreds of thousands of full text articles about Mendelian disease genes. You provide AMELIE a list of candidate genes, and a list of observed case phenotypes. AMELIE ranks all articles it read in search of a paper showing one of your candidate genes causing as many phenotypes close to your listed case phenotypes as possible.
VCF uploading is overloading our current server. We will upgrade the hardware, at which point it will work again. Sorry for the inconvenience.
Note:
AMELIE does not currently cover any cancer phenotypes.
AMELIE uses https web pages. All communications between your browser and AMELIE are encrypted.

How to best use AMELIE:
You can certainly try your hardest cases on AMELIE. It may find a paper that eluded you during many hours of manual searching. However, it is even better to give AMELIE a case just as you start on it. Read the medical notes, list patient phenotypes (e.g. using the HPO browser), add the gene list or a VCF file (for better results), run AMELIE. Start reading down the AMELIE gene and paper list. AMELIE may offer an answer in minutes that you could have gotten to yourself in hours. Save time. Have lots of cases? Save lots of time.

Take AMELIE home:
If you like AMELIE, note that we provide a programmatic interface (API, see Help). This means that your IT staff can incorporate AMELIE into your diagnostic workflow. Your in-house tools will then query AMELIE and get back all results. If you need an AMELIE license (see bottom of this page), encourage your workplace to get one. Support academic research for the future of our kids.
We welcome all feedback at .
If you get errors after uploading a VCF, please check your VCF file with the EBI VCF Validator.

Enter case information




Upload VCF (Do not load PHI data. Local install version forthcoming) Enter gene list

1% 1% Filter by allele/homozygote counts



Candidate genes (Ensembl ID/HGNC name
(+ optional "dominant"/"all"); one per line;
max. 1000 genes; click a demo button for an example)

Case phenotypes
(HPO IDs; max. 30 phenotypes;
one per line; see HPO Browser)




How to cite:
AMELIE accelerates Mendelian patient diagnosis directly from the primary literature
Johannes Birgmeier, Maximilian Haeussler, Cole A. Deisseroth, Karthik A. Jagadeesh, Alexander J. Ratner, Harendra Guturu, Aaron M. Wenger, Peter D. Stenson, David N. Cooper, Christopher Re, Jonathan A. Bernstein, Gill Bejerano
bioRxiv 171322; doi: https://doi.org/10.1101/171322