Code Monkey home page Code Monkey logo

docm's People

Contributors

acoffman avatar ahwagner avatar bainscou avatar jmcmichael avatar malachig avatar nspies13 avatar obigriffith avatar susannasiebert avatar

Stargazers

 avatar  avatar  avatar  avatar  avatar

Watchers

 avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar  avatar

docm's Issues

API Doesn't Return drug_interactions field

You example includes a drug_interactions field in the response, but if you try this example no drug interaction data is returned.

/api/v1/variants/ENST00000263967:c.1633G>C.json

VCF TSV discrepancies

A user found the following discrepancy

There is a set of discrepancies between the VCF and TSV files in the DOCM.
In the TSV, there are four 4bp insertions in the NPM1 gene (chr5, 170837546).
In the VCF, they are listed as 3bp insertions.
Based on the cited paper (PMID 19657110), I believe that the TSV version is correct.

HGVSc. annotations

The HGVSc. annotations in the TSV file are all given with respect to the plus strand, but they should be given with respect to the sense strand. For example, the variant in MTOR at chr1, 11174420 is listed as c.7255C>T, but it should be c.7255G>A (since the coding strand of MTOR is the minus strand).

Support for interactive queries by URL

Linking in from other resources to DoCM for gene-level information is currently unavailable. It would be nice if I could go to docm.genome.wustl.edu/genes/PTEN and see the webpage rendered like so:

docm_pten

Add external links to civic

It would be great if the was a link to the CIViC variant summary in the "Variant Data" box of the variant page.

Additionally, a link to the accompanying evidence item could go into the external links column of the disease data box on the variant page.

It would be especially cool if this was a icon or button with the civic logo. Maybe "see in CIViC" or something.

Order pubmed ids in data grid

How is a list of pubmed IDs currently sorted in DoCM. e.g. PIK3CA p.E545K lists these pubmed ids:

18725974, 22162589, 19513541, 19029981, 16906227, 21430269, 15647370, 22271473, 22162582, 15805248, 20453058, 18676830, 15254419, 15016963, 16930767, 20619739, 19903786, 19366826

Maybe these should be ordered from oldest to newest?

Also, this list of IDs is very important to have, but not very informative to view. Would it be better to list the publications in the format of Jones et al. 2015. So that at least for some people they would be more familiar.

Variants not imported

The following variants are not importing

chromosome  start   stop    gene    reference   variant
4   55593594    55593594    KIT GAAGTACAGTGGAAG -
4   55593594    55593594    KIT GAAGTACAGTGGAAGGTT  -
4   55593600    55593601    KIT -   CTA
4   55593600    55593601    KIT -   CTC
4   55593600    55593601    KIT -   CTG
4   55593600    55593601    KIT -   CTT
4   55593600    55593601    KIT -   TTA
4   55593600    55593601    KIT -   TTG
4   55593609    55593611    KIT GTT -
4   55593628    55593628    KIT G   T
4   55593630    55593647    KIT AACAATTATGTTACAGAC  -
4   55593630    55593656    KIT AACAATTATGTTACAGACCCAACA    -
4   55593657    55593658    KIT -   CCAGAA
4   55593657    55593658    KIT -   CCAGAG
4   55593657    55593658    KIT -   CCCGAA
4   55593657    55593658    KIT -   CCCGAG
4   55593657    55593658    KIT -   CCGGAA
4   55593657    55593658    KIT -   CCGGAG
4   55593657    55593658    KIT -   CCTGAA
4   55593657    55593658    KIT -   CCTGAG
4   55593669    55593671    KIT GAT -
4   55594197    55594197    KIT C   T
4   55599338    55599338    KIT A   T
4   55602700    55602700    KIT A   G
4   55602770    55602770    KIT C   T
7   6426892 6426892 RAC1    C   T
7   128829195   128829196   SMO CC  TT
7   128845101   128845101   SMO C   T
7   128846116   128846117   SMO CC  TT
7   128849224   128849225   SMO CC  TT
7   128850279   128850280   SMO CC  TT
7   128850341   128850341   SMO G   T
7   128850838   128850838   SMO G   A
7   128851883   128851883   SMO C   T
7   128852191   128852192   SMO CC  TT
7   140453155   140453155   BRAF    C   A
9   133738307   133738307   ABL1    A   T
19  17948006    17948006    JAK3    G   A
19  17948009    17948009    JAK3    G   A
19  18271909    18271909    PIK3R2  C   T

TSV exports contain html-sanitized characters

Do any search (I pulled down 'acute myeloid leukemia'), then export at TSV of the list. The first line of the text file contains the following:
ENST00000373103:c.1853G>A

Instead of the expected
ENST00000373103:c.1853G>A

update gene annotation builds

Currently, all transcripts in DoCM are labeled as build 74 of ensembl genes. Is this reflective of the VEP annotations we're pulling? My understanding is that the API only hits the most recent build... e74.rest.ensembl.org isn't a thing, unfortunately. I suggest that we check that the coordinates of our existing variants in DoCM are correct in 84, and then update our tags accordingly.

create gene link to CIViC from DoCM

Currently when you look at a variant in DOCM, there is a link out to results in DGIdb like this:

Gene: KRAS ( View drug interactions on DGIdb )

We should add a similar link to the gene summary page in CIViC

screen shot 2016-03-10 at 11 16 43 am

Improve sources page

The current sources page (http://docm.genome.wustl.edu/sources) is worded in such a way that it appears that the only/main sources for DoCM are MyCancerGenome and the Knowledge Database. This is an underrepresentation of the sources that inspired content for DoCM. We should better explain how DoCM uses such sources, as well as key papers that published extensive lists, and more focused papers that describe specific groups of variants.

Improve news page

The news page has not been kept very up to date with developments. We should summarize when new features are added, when new variants are added, and perhaps even when important bugs are fixed. We can also report cases where DoCM will be presented publicly here.

Improve FAQ page

The current FAQ page feels a bit like a place holder right now. We should fill this page in with more content. The FAQ pages of DGIdb and CIViC may provide some inspiration.

Add new data sources to DoCM

Some additional variant lists have been curated but have not yet been imported into the liver version of DoCM. Prior to publication we should do these imports and update the News feed as we add them.

Add tags to variant objects

a variant can have many tags.

Tags must be 5 words or fewer.

Tags can describe the variant and allow for custom organization and filtering

Make external links open up a new tab

We don't want our users to leave DoCM and never come back! It would be nice if a new tab would open when you click on a link like the pubmed id, dgidb or mycancergenome.

Create a DoCM tutorial

We should create a DoCM tutorial. This could live on a new page of the DoCM site (e.g. help or getting started).

This tutorial could include things like:

  • Query using DoCM website to get all variants for a specific disease, all variants for a specific gene, all variants for a region of the genome.
  • Export results of a query to a VCF file or TSV file
  • Use the API to perform the same queries. Provide an example script that does this. To lower the bar for a broad variety of users, provide examples written in Perl, Python and Ruby.

VCF validity

Hello, the vcf download has "/" and " " in the info field and this breaks at least pyvcf, does this fit VCF spec?
Thanks

Matt

Reverse the Sort Order on the Version Select Dropdown

The current (most recent) version is at the top, and then the versions are listed in ascending order. It seems more intuitive to me that the versions would be listed in descending order, with the second entry starting at the penultimate version.

screen shot 2016-03-29 at 3 52 27 pm

Recommend Projects

  • React photo React

    A declarative, efficient, and flexible JavaScript library for building user interfaces.

  • Vue.js photo Vue.js

    ๐Ÿ–– Vue.js is a progressive, incrementally-adoptable JavaScript framework for building UI on the web.

  • Typescript photo Typescript

    TypeScript is a superset of JavaScript that compiles to clean JavaScript output.

  • TensorFlow photo TensorFlow

    An Open Source Machine Learning Framework for Everyone

  • Django photo Django

    The Web framework for perfectionists with deadlines.

  • D3 photo D3

    Bring data to life with SVG, Canvas and HTML. ๐Ÿ“Š๐Ÿ“ˆ๐ŸŽ‰

Recommend Topics

  • javascript

    JavaScript (JS) is a lightweight interpreted programming language with first-class functions.

  • web

    Some thing interesting about web. New door for the world.

  • server

    A server is a program made to process requests and deliver data to clients.

  • Machine learning

    Machine learning is a way of modeling and interpreting data that allows a piece of software to respond intelligently.

  • Game

    Some thing interesting about game, make everyone happy.

Recommend Org

  • Facebook photo Facebook

    We are working to build community through open source technology. NB: members must have two-factor auth.

  • Microsoft photo Microsoft

    Open source projects and samples from Microsoft.

  • Google photo Google

    Google โค๏ธ Open Source for everyone.

  • D3 photo D3

    Data-Driven Documents codes.