Nikolas Pontikos
Nikolas Pontikos
Provide an API for communicating with the ga4gh: https://github.com/ga4gh Also connecting database to Matchmaker Exchange API: http://www.matchmakerexchange.org/i_have_a_database.html
The rows which are causal variants should be highlighted in /gene page. This would involve using the `solved_patients` collection. Would be interesting to see whether there are other variants in...
https://bioinfo.extge.co.uk/crowdsourcing/PanelApp/ The gene panels that are found in Genomics England PanelApp are used in the analysis of genomes in the 100,000 Genomes Project, for the tiering of variants in genes...
Performance of Phenogenon needs to be assessed systematically. Some sort of power analysis (i.e sensitivity) using solved cases could be useful. I don't think it's realistic for Phenogenon to find...
[Phenotips](https://phenotips.org/) is the interface used for entering patient clinical features. While it's a very nice interface, it would be nice to not have an external dependency on a Java program....
Make sure these links work: https://uclex.cs.ucl.ac.uk/pubmedbatch-cache/RBMXL3_blindness-macula-macular-pigmentosa-retina-retinal-retinitis-stargardt https://uclex.cs.ucl.ac.uk/pubmedbatch-cache/DRAM2_blindness-macula-macular-pigmentosa-retina-retinal-retinitis-stargardt That the JSON is valid and that the scoring works.
There are a number of trios in our database. The first step is to identify them properly. Then we can do some analysis such as phasing and tdentification of denovo...
Import and display Copy Number Variant data
Use Oauth for authentication but require registration (using Google page form for example). Implement formal user registration page.
Capacity to filter variants in gene based on HPO terms. Pick suitable thresholds for variant frequency and CADD score per gene and phenotype based on solved cases.