Tag Archives: UCSC Genome Browser

SNPpets_2

Friday SNPpets

This week’s SNPpets have a pretty typical list of both new and updated sites and tools. The wheat genome (not gluten-free). A couple of key bits for folks who are scripting calls to NCBI (need to use https soon), or for folks in Asia who could use a UCSC Genome Browser mirror site closer to their location: http://genome-asia.ucsc.edu/. But my favorite thing this week was the best postdoc ad on twitter evah–see the snake one.


SNPpets_2Welcome to our Friday feature link collection: SNPpets. During the week we come across a lot of links and reads that we think are interesting, but don’t make it to a blog post. Here they are for your enjoyment…


https://twitter.com/Sara_and_Snakes/status/742891484064546816

UCSC Genome Bioinformatics

Video Tip of the Week: UCSC Genome Browser Exon-only Mode

The team at UCSC Genome Browser continues to update their resources and offer new ways to find and visualize features of interest to researchers. One of the newer features is the “multi-region” option.  When it was first launched, I did a tip on how to use that, with some of the things that I noticed while I was testing it pre-launch. But now the folks at UCSC have their own video on the exon-only display that you might also find useful.

One of the things that is illustrated here is how the exon-only mode is handy to enhance your exploration of RNA-Seq data. It also uses a great ENCODE data set as an example, and if you haven’t been using that collection it’s a good reminder of the kinds of things you can find in that resource still. And this extensive data set shows how much easier it is to look at different isoforms in the data in this new exon-only mode.

So have a look at this display option if you haven’t before, especially how it can help you to see transcript differences. If you aren’t familiar with the ENCODE data that’s being used, you can also see our training on that which will help you to understand how to use that data and the filtering features that are also used in this video.

Special note: I have updated the UCSC Intro slides to include the new Gateway strategies as well. So download those slides for the latest look. 

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Disclosure: UCSC Genome Browser tutorials are freely available because UCSC sponsors us to do training and outreach on the UCSC Genome Browser.

Quick links:

UCSC Genome Browser: http://genome.ucsc.edu

UCSC Genome Browser training materials: http://openhelix.com/ucsc

ENCODE: http://www.openhelix.com/ENCODE2

References:

Speir, M., Zweig, A., Rosenbloom, K., Raney, B., Paten, B., Nejad, P., Lee, B., Learned, K., Karolchik, D., Hinrichs, A., Heitner, S., Harte, R., Haeussler, M., Guruvadoo, L., Fujita, P., Eisenhart, C., Diekhans, M., Clawson, H., Casper, J., Barber, G., Haussler, D., Kuhn, R., & Kent, W. (2016). The UCSC Genome Browser database: 2016 update Nucleic Acids Research, 44 (D1) DOI: 10.1093/nar/gkv1275

The ENCODE Project Consortium (2012). An integrated encyclopedia of DNA elements in the human genome Nature, 489 (7414), 57-74 DOI: 10.1038/nature11247

sneakPeekGateway

Video Tip of the Week: New UCSC Genome Browser Gateway look

sneakPeekGateway

For years now we’ve been doing training and outreach on the UCSC Genome Browser. And there’s been a lot of change over the years–so much more data, so many new tools, new species. All that ENCODE information and a portal for that. But the look of the main site was largely the same. Here’s a post we did that included the UCSC site traffic in 2000, and another time we took a look at the old style interface ~2004. And there was the switch to the new blue look in 2012.

However, the main gateway page was largely the familiar look. The gateway–where you begin to do most text-based or region-based queries for a species–was mostly altered only with some additional buttons and options. And an increasingly long list of species to choose from. But now–it’s time to look again. The gateway is very different today. You’ll have faster and easier access to get started when you go to the site, and new ways to engage with the data that you want to begin to access.

There are additional details on the UCSC landing page in the News area, including credits to the development team involved. The other key pieces include some relocations of the previous button options:

Note that a few browser utilities that were previously accessed through links and buttons on the Gateway page have been moved to the top menu bar:

*Browser reset: Genome Browser > Reset All User Settings
*Track search: Genome Browser > Track Search
*Add custom tracks: My Data > Custom Tracks
*Track hubs: My Data > Track Hubs
*Configure tracks and display: Genome Browser > Configure

The UCSC team has created a short intro video to the new look. That is our Video Tip of the Week:

Of course, this means we’ll need to update our slides and exercises. We like things to stabilize a bit after a rollout to be sure things are solid. But soon we’ll include the new navigation in our materials.

The underlying ways to access the particular assembly features you need for a given genome, and the data for your tracks of interest, is unchanged. So those parts of our training materials will still help you to get the most out of your searches. We’ll let you know when we’ve made the changes to the materials as well.

 

Quick links:

UCSC Genome Browser main landing page: http://genome.ucsc.edu

Training materials:

Intro: http://openhelix.com/ucsc

Advanced: http://openhelix.com/ucscadv

Reference:

Speir, M., Zweig, A., Rosenbloom, K., Raney, B., Paten, B., Nejad, P., Lee, B., Learned, K., Karolchik, D., Hinrichs, A., Heitner, S., Harte, R., Haeussler, M., Guruvadoo, L., Fujita, P., Eisenhart, C., Diekhans, M., Clawson, H., Casper, J., Barber, G., Haussler, D., Kuhn, R., & Kent, W. (2015). The UCSC Genome Browser database: 2016 update Nucleic Acids Research DOI: 10.1093/nar/gkv1275

Disclosure: UCSC Genome Browser tutorials are freely available because UCSC sponsors us to do training and outreach on the UCSC Genome Browser.

SNPpets_2

Friday SNPpets

This week’s SNPpets include something unusual: bioinformatics software becoming a mainstream discussion. A recent NYT piece about Zika genomics included a Bandage software-based illustrations, and a subsequent explainer piece in SciAm covered it. Zika was big this week. Of course, we covered Bandage months ago…. A reprise and riff of Tardigate was good reading. Also this week: GBrowse for peanut, FireBrowse for the Broad, updates to GeneMania, Galaxy record hit, and the opposite of update: UCSC Genome Browser in ASCII. Impersonal genomics made me laugh.


SNPpets_2Welcome to our Friday feature link collection: SNPpets. During the week we come across a lot of links and reads that we think are interesting, but don’t make it to a blog post. Here they are for your enjoyment…


UCSC Genome Browser new feature

Video Tip of the Week: Multi-region visualization in the UCSC Genome Browser

This week’s video tip demonstrates a new feature at the UCSC Genome Browser. I think it’s kind of unusual, and conceptually took me a little while to get used to when I started testing it. So I wanted to go over the basics for you, and give you a couple of tips on things that I had to grok as I got used to this new visualization option.

The headline for the news item describes it as: “Combine Multiple Regions of the Genome Browser into a Single Visualization!” and

Have you ever wished you could remove all of the intronic or intergenic regions from the Genome Browser display? Have you ever dreamed of being able to visualize multiple far-flung regions of a genome? Well, now you can with the new “multi-region” option in the Genome Browser!

I should probably start with the first thing that confused me–the name “multi-region”. I thought that I was going to be able to see maybe part of a region on chromosome 1, and something on chromosome 8, maybe at the same time. But that’s not how this works. In this case, you look at multiple regions along the same chromosome, with some of the intervening sequences snipped out. This creates a sort of “virtual chromosome” for you to interact with.

In this week’s video, I’ll show you how that looks using the BRCA1 gene. First I show how you can look at all the exons together–with introns clipped out. And then I show how you can see the genes in the neighborhood displayed together, with the non-coding regions clipped out. These are 2 of the separate options for viewing.

I use the “View” menu option to illustrate this feature. But there is another way to access it–you can use the “multi-region” button in the browser buttons area.

multiregion_button

To keep the video short, I didn’t go into every detail on this tool. You should check out the news announcement for it, and the link to the additional details in the User Guide documentation for more. The new feature is also mentioned briefly in the lastest NAR paper on the UCSC Genome Browser (linked below). And you should try it out, of course! That’s the best way to really understand how it might help you to visualize regions of the genome that you might be interested in.

Also as in the news, thanks to the development team. I am always looking for new visualizations, and this fun to test!

Thank you to Galt Barber, Matthew Speir, and the entire UCSC Genome Browser quality assurance team for all of their efforts in creating these exciting new display modes.

Follow UCSC on Twitter: 

Quick links:

UCSC Genome Browser: genome.ucsc.edu

News item on multi-region: http://genome.ucsc.edu/goldenPath/newsarch.html#030816

Training materials on the UCSC Genome Browser: http://openhelix.com/ucsc

Reference:

Speir, M., Zweig, A., Rosenbloom, K., Raney, B., Paten, B., Nejad, P., Lee, B., Learned, K., Karolchik, D., Hinrichs, A., Heitner, S., Harte, R., Haeussler, M., Guruvadoo, L., Fujita, P., Eisenhart, C., Diekhans, M., Clawson, H., Casper, J., Barber, G., Haussler, D., Kuhn, R., & Kent, W. (2016). The UCSC Genome Browser database: 2016 update Nucleic Acids Research, 44 (D1) DOI: 10.1093/nar/gkv1275

Disclosure: UCSC Genome Browser tutorials are freely available because UCSC sponsors us to do training and outreach on the UCSC Genome Browser.

one query type from: genomeportal.stanford.edu/pan-tcga/

Tip of the Week: The Cancer Genome Atlas Clinical Explorer

Accessing TCGA cancer data has been approached in a variety of ways. This week’s tip of the week highlights a web-based portal for improved access to the data in different ways. The Stanford Cancer Genome Atlas Clinical Explorer is aimed at helping identify clinically relevant genes in the cancer data sets.

They note that the data is available in other places and tools, from tools we’ve talked about before such as cBioPortal, UCSC Cancer Genomics Browser, and interacting with the StratomeX features. But this portal helps peoplt to quickly focus on clinical parameters in ways that aren’t as straightforward in the other tools.

You can learn more about the project on their site from their Overview at the site, and you can see their publication about it (below). The paper also covers some issues they had with the downloaded data that might be worth noting. And they also supplemented their analysis and information with COSMIC and TARGET (tumor alterations relevant for genomics-driven therapy) data as well.

one query type from: genomeportal.stanford.edu/pan-tcga/

One query type from: genomeportal.stanford.edu/pan-tcga/

The interface offers several quick ways to dive into the data.

There are 3 main query types: genes associated with certain clinical parameters; query directly by gene/protein/miR; and a two-hit hypothesis test. The first query is the image I’ve shown here. When you get to the the results, you can explore them in more detail with sortable tabular outputs, and on gene pages tabs for copy number changes, mutations, and RNA-seq values.

They give you some “example queries” that you can use as a way to get started and see what’s available underneath. And although we usually like to highlight a video, the tutorial that they provide is a slide embed.

So have a look at this interface if you’d like to explore TCGA data with a handy and quick query strategy. It might offer some hunting license on genes you are interested in, or some ideas for other investigations in tumor types you study.

 

Quick link:

Stanford-TCGA-CE: http://genomeportal.stanford.edu/pan-tcga

Reference: 
Lee, H., Palm, J., Grimes, S., & Ji, H. (2015). The Cancer Genome Atlas Clinical Explorer: a web and mobile interface for identifying clinical–genomic driver associations Genome Medicine, 7 (1) DOI: 10.1186/s13073-015-0226-3

SNPpets_2

Friday SNPpets

This week’s SNPpets cover a range of issues. Attempting to community-curate bioinformatics tools, a new paper on UCSC Genome Browser‘s features, iPlant now reborn as CyVerse, errors in databases, personalized diagnosis from the UK 100000 Genomes project and the re-launch of their PanelApp, and some new plant tools: AgroPortal and 30 plants going into OrothoDB. Also, read those thesis submissions carefully. There may be an easter egg.


SNPpets_2Welcome to our Friday feature link collection: SNPpets. During the week we come across a lot of links and reads that we think are interesting, but don’t make it to a blog post. Here they are for your enjoyment…


unirule_sample

Video Tip of the Week: UniProt updates, now including portable BED files

UniProt is one of the core resources that provides tremendously important curated information about proteins. You will find links to UniProt in lots of other tools and databases as well, but we’ve always championed going directly there for the full look at all the wide range of information they offer. Their foundation remains solid, but they also continue to add new and useful features over time. Recently they had a webinar to describe some of the new things, and the recording of that webinar will be this week’s Video Tip fo the Week.

The video starts with an overview of the whole UniProt site. The core of their great resource is the same, of course. UniProtKB, UniRef, and UniParc are there for various ways to look across the data. The handy Proteomes collection of the proteins in a given species is available, and they also have reference proteomes from that access point. There’s a short section in the video that’s a guide to the basic search functions.

About 9 minutes in they introduce the UniRule annotation features. When certain conditions are met, an annotation gets applied to a protein–which you can trace from the protein pages by clicking on the UniRule link for that annotation. unirule_sampleAnd their software offers a very cool way to look and see how/when conditions are applied. It will load a decision flow path and highlights what the logic rules were used in that particular case, so you can trace it and understand how a protein got a given item. That’s what I illustrate in the screen shot here.

About 14 min, the topic changed to the new Genome Annotation Tracks. They now offer you a way to take their annotations for a UniProtKB entry and use them with a separate genome browser. They hand you BED or BigBed files for different features. You can also load the whole thing as a Hub file to see all the sequence feature data at once. They are species-specific, and started with human, but others are coming. You can access them from the “Downloads” area of the homepage. The video also described a bit about the structure there as well. So you could take these files to ENSEMBL or UCSC Genome Browser and load them, with all the UniProt features now to compare to the existing genomic context at those browsers. They illustrate how you can look at the “active site” annotations, but you can also look at post-translation modification sites, domains, etc. This was a feature that was new to me, and looks like a terrific idea.

So even if you think you know UniProt, check out these new options for additional ways to interact with the high-quality information they provide. Good stuff.

Quick links:

UniProt: http://www.uniprot.org/

Reference:

The UniProt Consortium (2014). UniProt: a hub for protein information Nucleic Acids Research, 43 (D1) DOI: 10.1093/nar/gku989

View External Tools

Video Tip of the Week: Send UCSC Genome Browser sequence to external tools

The folks at the UCSC Genome Browser are always adding new features, new data, and new genomes to their site. And although they use the genome-announce mailing list to get the word out, even I can miss a notice. There was news recently of a new feature associated with the graphical genome browser that I’ve been waiting for (as I had tested it prior to roll-out), but they sent the email out when I was prepping for Thanksgiving, and I didn’t catch it for a few days.

But now I’ve had a chance to see it, kick the tires more, and I want to show you how it works. The basic feature is this: you can take the genomic sequence from the window you are viewing and with a couple of clicks deliver it right to another tool for more helpful data or analysis. This is really handy from the graphical viewer. Before you were limited to obtaining the sequence with the “Get DNA” option. You could get the sequence, copy/paste, and do whatever. Which is fine, and might still be right for some other tools. But now you can skip that copy/paste part and explore features of your sequence directly. If you don’t have time for the video, here’s the bullet–use this View–>In External Tools menu to get there.

View External Tools

There are a range of options. You can still jump right to NCBI Map Viewer or Ensembl to look at the same region in their browsers. But now you can select primers, see restriction sites, look at RNA characteristics, find protein domains, or examine CRISPR tools. You can look for transcription start sites or some TF binding motifs. Here’s this week’s Video Tip that shows the process.

You can still “get DNA” if you want to. And you can still use the Table Browser to send data from your custom queries to even more tools (like Galaxy and others). But we know from our workshops that most people we train spend their time in the graphic browser and these tools should help them accomplish more. You can see all of these options in our freely available training suites (linked below).

To see if there are other things you missed over the past year, check out the new NAR database issue paper from the UCSC team (linked below). It has updates about many of their accomplishments and recent features, so have a look and see if there are other useful aspects for assisting your research.

Quick links:

UCSC Genome Browser: http://genome.ucsc.edu/

Intro full training suite: http://openhelix.com/ucsc

Advanced topics training suite: http://openhelix.com/ucscadv

Reference:

Speir, M., Zweig, A., Rosenbloom, K., Raney, B., Paten, B., Nejad, P., Lee, B., Learned, K., Karolchik, D., Hinrichs, A., Heitner, S., Harte, R., Haeussler, M., Guruvadoo, L., Fujita, P., Eisenhart, C., Diekhans, M., Clawson, H., Casper, J., Barber, G., Haussler, D., Kuhn, R., & Kent, W. (2015). The UCSC Genome Browser database: 2016 update Nucleic Acids Research DOI: 10.1093/nar/gkv1275

Disclosure: UCSC Genome Browser tutorials are freely available because UCSC sponsors us to do training and outreach on the UCSC Genome Browser.

ucscadv_scap

Video Tip of the Week: UCSC Table Browser and Custom Tracks

UCSC IntroThis week’s video tip is longer than usual. But if you want to dig deeper into all the data that you know is coming in to the UCSC Genome Browser, you want to use the Table Browser. If you’ve only used the genome browser interface, you are missing a lot of opportunity to mine for great data.

The UCSC Genome Browser folks have been continuously adding new features and data over the years since they’ve been sponsoring our free training materials. But the look of the Table Browser hadn’t changed all that much. However, with the move to the new hg38 assembly as the default human genome, it was a good time for us to update the shots of the training materials for the Table Browser. It also gave us the chance to include track hubs, which we hadn’t covered in the previous version. And we also touch briefly on Genome Browser in a Box.

As before, we have a recorded video. And we have also included updated slides that you can use to train others. And our exercises are there for more practice, too.

ucscadv_scap

We’ve also mentioned before that we have a handy paper that also can help people to get up to speed on UCSC features. Our Current Protocols paper is now un-paywalled in PMC, so if you want to supplement the video with this other piece, there’s a bit more detail on how to do hubs of your own. But you should also see the specific papers on that. And there’s more guidance in this video tip from before.

So check out the new materials for the advanced topics. And see the new preprint (linked below) for more details and upcoming features as well.

Quick links:

UCSC Genome Browser homepage: genome.ucsc.edu

Training suite: openhelix.com/ucscadv

References:

Rosenbloom, K., Armstrong, J., Barber, G., Casper, J., Clawson, H., Diekhans, M., Dreszer, T., Fujita, P., Guruvadoo, L., Haeussler, M., Harte, R., Heitner, S., Hickey, G., Hinrichs, A., Hubley, R., Karolchik, D., Learned, K., Lee, B., Li, C., Miga, K., Nguyen, N., Paten, B., Raney, B., Smit, A., Speir, M., Zweig, A., Haussler, D., Kuhn, R., & Kent, W. (2014). The UCSC Genome Browser database: 2015 update Nucleic Acids Research, 43 (D1) DOI: 10.1093/nar/gku1177

Matthew L. Speir, Ann S. Zweig, Kate R. Rosenbloom, Brian J. Raney, Benedict Paten, Parisa Nejad, Brian T. Lee, Katrina Learned, Donna Karolchik, Angie S. Hinrichs, Steve Heitner, Rachel A. Harte, Maximilian Haeussler, Luvina Guruvadoo, Pauline A. Fujita, Christopher Eisenhart, Mark Diekhans, Hiram Clawson, Jonathan Casper, Galt P. Barber, David Haussler, Robert M. Kuhn, W. James Kent. (2015). The UCSC Genome Browser database: 2016 update bioRxiv DOI: 10.1101/027037

Mangan ME, Williams JM, Kuhn RM, & Lathe WC (2014). The UCSC Genome Browser: What Every Molecular Biologist Should Know Current Protocols in Molecular Biology., 107 (19.9), 199-199 DOI: 10.1002/0471142727.mb1909s107

Disclosure: UCSC Genome Browser tutorials are freely available because UCSC sponsors us to do training and outreach on the UCSC Genome Browser.