Blog
UMLS identifiers now available
The Unified Medical Language System UMLS consolidates and standardizes health and biomedical vocabularies from several important resources to enable interoperability between computer systems. Now you can use MyGene.info service to obtain UMLS Concept Unique Identifiers (CUIs).
Here are a few quick examples:
Information extraction and the missing Mark2Cure module
In our previous post, we asked readers, ‘What is your preferred moniker?’. Here is the response:
Mark2Curator: 36%
Citizen Scientist: 36%
Contributor: 18%
“Anything BUT volunpeer”: 10%
Although it may seem a little strange that researchers have been struggling to find an answer to the “What’s in a name?
New Data Release for MyVariant.info 201708
Another fresh data release for MyVariant.info is out! In this data release, we have updated the data from ClinVar and UniProtKB to their latest versions, and also added variant annotation from CIViC and Cancer Genome Interpreter. Here are more details.
Data Sources Updated
ClinVar was updated to its latest
Join Mark2Cure and Dazzle4Rare
From August 13th to August 20th, Mark2Cure will be participating in the #Dazzle4Rare campaign to raise awareness for rare diseases. Did you know? About 10% of the population lives with a rare disease, and roughly 50% of rare diseases don’t have any sort of disease-specific foundation to support or
Upcoming #CitSciChat on Biomedical Citizen Science
Join Mark2Cure, Cochrane Crowd, EyesOnAlz, Foldit, and CitSciBio as we discuss the challenges of applying citizen science to biomedical research
Integrating Wikidata and other linked data sources – Federated SPARQL queries
This blog is about running federated SPARQL queries on Wikidata. A federated query is a special type of SPARQL query that runs on more then one SPARQL endpoint. It allows access to multiple linked data resources in a single query. Below is a template of a federated...
The Gene Wiki project: Looking to the future v.2017
The Gene Wiki project has been generously funded by the National Institutes for General Medical Sciences (NIGMS) since 2009. As the second funding period is wrapping up early next year, it was time to once again look forward and think about our vision for the next 4-5...
New Data Release for MyVariant.info 201706
Another fresh data release for MyVariant.info is out! In this data release, we have updated the data from ClinVar to their latest versions, and also added two new fields under ClinVar and ExAC to handle specific cases, including genotype set and multi-allelic variants. Here are more details.
Data Sources
Happy Fathers Day!
A HUGE thanks to all the dads (and EVERYONE) who has been contributing to make a difference for the NGLY1 families.
Shipping delays
Apologies to international prize and drawing winners who were waiting for their prizes. Most of the international packages that we shipped out in May/June have been
Science Game Lab: tool for the unification of biomedical games with a purpose
Abstract
Games with a purpose and other kinds of citizen science initiatives demonstrate great potential for advancing biomedical science and improving STEM education. Articles documenting the success of projects such as Fold.it and Eyewire in high impact journals have raised wide interest in new applications of the distributed human intelligence that these systems have tapped into.