الوسم المحفوظات: open data

Mygene2_vid

تلميح فيديو للأسبوع: MyGene2, ربط الأسر التي لديها حالات نادرة مع بعضها البعض

Last week’s tip encouraged people to think about how their DNA may be used by various stakeholders. This could be researchers, physicians, pharmaceutical companies, وهلم جرا. But one thing it didn’t really cover–now that I think of it–was connecting with other families who may share variations that impact the health of someone in their household. If there isn’t research, or treatment, this connection alone might be worth it for some families.

So when NPR recently had a story on a database for families with rare genetic conditions, ذهبت لالقاء نظرة: Families Isolated By Rare Genetic Conditions Find New Ways To Reach Out.

الموقع هو MyGene2, and it can help unrelated folks who have the same genome challenges connect with each other. It also can connect folks to researchers interested in the topic. But it does seem to be aimed more specifically at families seeking each other. It was recently awarded a chance to compete for the final prize in the Open Science Prize effort, and they got a funding boost to keep going.

هناك “ترحيب” video that they’ve made, but it’s light on the software details. لا يزال, رغم أن, I wanted to share the information so families may find it, and researchers may want to know about this resources as well. The video isn’t embeddable, رغم أن, so you’ll have to click to view it:

Mygene2_vid

You can learn more about the resources from their FAQ collection. I’ve found a couple of references (أقل من) that provide some further information about the project [لاحظ: و علم الوراثة في الطب one goes to a paywalled, قطعة–but you can access the pre-print version PDF at bioRxiv]. As more and more families who are seeking answers will have sequencing information available, they’ll need a place to go with that. I hope they find each other, and find answers.

وصلات سريعة:

MyGene2: http://www.mygene2.org

متابعتها على تويتر: https://twitter.com/MyGene2

Find them on Facebook: https://www.facebook.com/MyGene2/

علم الوراثة في الطب piece also notes My46.org, “a web-based tool for managing return of genetic test results”.)

المراجع:

Panko, B. (2016). Six finalists to compete for Open Science Prize العلم دوى: 10.1126/science.aaf9980

Chong, ج., يو, ج., Lorentzen, P., متنزه, ك., Jamal, س., Tabor, ه., Rauch, أ., Saenz, م., Boltshauser, E., Patterson, ك., نيكرسون, د., & Bamshad, M. (2015). Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features علم الوراثة في الطب دوى: 10.1038/gim.2015.161