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brca-exchange

Overall management and deployment of the BRCA Exchange web portal and pipeline scripts

Biomedicine is in transition as genetic testing is becoming the standard of care. A growing number of individuals are now undergoing genetic testing to better understand and manage their risk of disease. This is particularly true of BRCA testing. Women who carry pathogenic BRCA2 variants have an estimated 49% risk of breast cancer and 18% risk of ovarian cancer by the age of 70; the risk for those carrying a BRCA1 variant are worse at 57% and 40% respectively. Pathogenic BRCA variants have been implicated in prostate, pancreatic and stomach cancers, and some variants in these genes can indicate cancer patients who are likely to benefit from treatment with PARP inhibitors. All of these findings have greatly increased the rate at which BRCA testing is performed. As more individuals undergo testing, new genetic variants continue to be observed, however, our ability to detect these variants has outpaced our ability to determine their clinical significance. About one-third of BRCA variants currently in ClinVar are Variants of Uncertain Significance (see https://www.ncbi.nlm.nih.gov/clinvar). And more importantly, all too often, BRCA tests report one or more Variants of Unknown or Uncertain Significance (VUS). While VUS rates vary by test, a common estimate is that roughly 15% of BRCA tests report one or more VUS.

Solving the VUS problem means gathering BRCA variation data from wherever it is available. In 2014, the Global Alliance for Genomics and Health (GA4GH) launched the BRCA Challenge to address the challenges in gathering data from around the globe by focusing first on two important, well-characterized genes, which will ultimately serving as a model for other genes. In 2016, we launched BRCA Exchange (https://brcaexchange.org), the first work product of the BRCA Challenge. BRCA Exchange now combines BRCA variant-level data from ClinVar, LOVD, BIC, ExAC, 1000 Genomes, ESP, exLOVD and ENIGMA into the world’s largest source of non-proprietary BRCA variant-level data. These data have enabled the expert review of thousands of variants.

##Authors Benedict Paten, Charles Markello, Molly Zhang, Max Haeussler, Melissa Cline, Zack Fischmann, Joe Thomas, Brian Craft.

##Contributing

See the Contributors Guide.

brca-exchange's People

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brca-exchange's Issues

Wrong path wsgi.py file

The file wigs.py currently sits under brca-exchange/website/django/ path, when it should be under brca-exchange/website/django/brca/ otherwise there is some initialization errors.

Bring up two developer sandboxes

@strbean , would you look into setting up two developer sandboxes, one for yourself and one for @zfisch ? Feel free to use Brian for guidance, and if you find yourself stuck in need of some sort of resource, let me know and I'll look into getting you unstuck. Thanks!

Community: Enumerate roles

Right now affiliations / roles are stored as a text column in the database, and if a user selects Other, the text can be anything. This makes working with them unnecessarily difficult.

Enumerate roles, use a Django Choice field in the user model, and add an other_role field for custom text.

Establish a license / data use agreement for the site

Submitters need to have a clear understanding that any non-PHI data submitted to BRCA Exchange can and will be accessed by site users. This includes users who download data, for example to import it into separate repos.

Change wording on front page

Right now it reads:
"Just type in box above and use auto-complete to search for BRCA1 or BRCA2 variants. For more information about the BRCA1 and BRCA2 genes, genetic variation, and cancer, please click the About link at the top of the page."

We will need to change this due to our navigation changing. Also, this is an opportunity to make our 'search help' more professional and less jargony (remove 'auto-complete')

Add right padding to Variant Detail table to match left padding.

If you select a specific variant on mobile, you'll notice there's a visible 15px padding on the left side of the div containing the variant detail table. If you swipe all the way to the right side of the table, there's no padding visible between the right side of the table and the right side of the page. In this way, it's not obvious that you're seeing the entire table (the rightmost border is not visible).

Evaluate back end options for Community Pages signups

From Mary:

Looks like there's quite a few options. Unsure which would be the best one. This is something that typically Brian C would look into as far as ease of implementation, features, etc.

Django email programs and templates (there are a ton): https://djangopackages.org/grids/g/email/. Maybe we can use one of these without mailchimp since several of them offer unsubscribe, etc. However, could not find email templates that were anything but text (ie. not professional looking). I searched for about 30 sec and then stopped so there could be things out there.

"Mandrill is a transactional email service offered by Mailchimp. There is an API client library for that too at https://pypi.python.org/pypi/mandrill/, "

Mandrill API: https://mandrillapp.com/api/docs/

Someone integrating django and mailchimp: http://qasimalbaqali.com/django-newsletter-app-with-mailchimp/

Note the djrill (django-mandrill interface) is no longer being maintained: https://djrill.readthedocs.io/en/v2.1/ and Mandrill is a paid service.

API for google contacts: https://developers.google.com/google-apps/contacts/v3/
You can add custom fields to google contacts: https://productforums.google.com/forum/?hl=en#!category-topic/gmail/contacts-and-sync/NaDweDetNGA

Use only full width of screen, prevent scrolling left and right

Use only full width of screen, prevent scrolling left and right (currently it’s too wide on mobile and allows some scrolling, also the sandwich icon in the navbar is initially off screen to the right which makes page navigation awkward).
Seeing funkiness in this respect -- sometimes it starts ok, then gets messed up after submitting a query on the homepage. Will need further review to understand what the problem is.

“Research Mode” pushes the nav sandwich icon down to fit the “Research” notice -- figure out how to keep everything on a single line without stretching the navbar vertically

If this is still a problem on the beta system, just add a More to the right side to stretch the navbar vertically. We've talked about putting certain menu items under More, particularly the ones that we think would get less traffic.

Mary Goldman
5:38 PM Yesterday
I've wireframed the 'More' here: https://docs.google.com/presentation/d/1rJ0_1Cpl9ePovhFm7ZsAjxQLsqI9AH8RqH-VksW3sVY Still may be too long with 'Community' ...

Zack Fischmann
8:53 AM Today
The problem I'm referring to here is that the "Research" text under the BRCA Exchange logo forces the sandwich menu icon down. Here's an image to demonstrate https://drive.google.com/file/d/0B4x14fnKjtITamFqZkR2V0F0amc/view?usp=sharing

Zack Fischmann
8:55 AM Today
I've noticed that on Safari mobile, the menu icon is initially off screen, which we could also fix.

Set up a new avatar on your github profile

Joe, would you add a photo to your github profile? It can be of yourself, or of whatever you like, just something more distinctive than the default random bit pattern. Thanks!

Make the main community page not change if 'logged in'

Even though we call it logging in, really it is just adjusting your profile. There are no additional benefits to logging in as far as the main community page is concerned.

After someone logs in, they can change their information and then when they click 'submit', they are automatically logged out. If they have further changes, then they log in again.

Does this make any sense?

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