TDWG Challenge - what is RDF good for?

Last month, feeling particularly grumpy, I fired off an email to the TDWG-TAG mailing list with the subject Lobbing grenades: a challenge. Here's the email:

It's morning and the coffee hasn't quite kicked in yet, but reading through recent TDWG TAG posts, and mindful of the upcoming meeting in New Orleans (which sadly I won't be attending) I'm seeing a mismatch between the amount of effort being expended on discussions of vocabularies, ontologies, etc. and the concrete results we can point to.

Hence, a challenge:

"What new things have we learnt about biodiversity by converting biodiversity data into RDF?"

I'm not saying we can't learn new things, I'm simply asking what have we learnt so far?

Since around 2006 we have had literally millions of triples in the wild (uBio, ION, Index Fungorum, IPNI, Catalogue of Life, more recently Biodiversity Collections Index, Atlas of Living Australia, World Register of Marine Species, etc.), most of these using the same vocabulary. What new inferences have we made?

Let's make the challenge more concrete. Load all these data sources into a triple store (subchallenge - is this actually possible?). Perhaps add other RDF sources (DBpedia, Bio2RDF, CrossRef). What novel inferences can we make?

I may, of course, simply be in "grumpy old arse" mode, but we have millions of triples in the wild and nothing to show for it. I hope I'm not alone in wondering why...

In the context of the TDWG meeting (happening as we speak and which I'm following via Twitter, hashtag #tdwg) Joel Sachs asked me whether I had any specific data in mind that could form the basis of a discussion. So, here goes. I've assembled some small RDF data sets that it might be fun to play with. Each data set is for frogs, and I've divided them into two sets.

Primary data
These data sets are essentially unmodified RDF fetched from data providers:

• uniprot.rdf Uniprot RDF for frogs in GenBank
• ion.rdf Index of Organism Names (ION) RDF for taxonomic names for frogs (filtered to just those names that are also in GenBank, the RDF comes from ION LSIDs)
• crossref.rdf CrossRef RDF for DOIs for publications that published new frog names (obtaining using CrossRef's support for Linked Data for DOIs)
• dbpedia.rdf Dbpedia RDF for frogs in GenBank (Update 2011-10-20: the dbpedia.rdf file is a bit big, so here is subset.rdf which has just the conservation status and thumbnail image)

These sources give us information on genomics (at least, they tell us which taxa have been sequenced), where and when the original taxonomic description was published, and by whom, as well as some information on conservation status and what the frog looks like (via Dbpedia). Ideally we just load these files into a triple store and then ask a bunch of questions, such as what is the conservation status of frogs sequenced in Genbank?, is there correlation between the conservation status of a frog and the date it was discovered?, who has described the most frog species?, etc.

My contention is that actually we can't do any of this because the data is siloed due to the lack of shared identifiers and vocabularies (I suspect that there is not a single identifier any of these files share). The only way we can currently link these data sets together is by shared string literals (e.g., taxonomic names), in which case why bother with RDF? So my first challenge is to see whether any of the questions I've just listed can actually be tackled using this data.

Glue
In a slightly more constructive mode, to see if we can make progress I'm providing some additional RDF files, based on projects I'm working on to link data together. These files may help provide some of the missing "glue" to connect these data sets.

• linkout.rdf The list of links between NCBI and Dbpedia (based on mapping in iPhylo LinkOut)
• ion_doi.rdf A subset of publications listed in ION have DOIs, this file links the corresponding ION LSIDs to those DOIs (this file is from an ongoing project mapping names to primary literature)

The first file links the ION and CrossRef RDF, so we could start to ask questions about dates of discovery, who described what species, etc.. The second file links NCBI taxon ids (in this case in the form of UniProt URIs) to Wikipedia (in the form of Dbpedia URIs). Dbpedia has information on conservation status, and some frogs will also have pictures, so we can start to join genomics to conservation, as well as make some visualisations.

Update
I've now added another RDF file for 1000 georeferenced GenBank sequences for frogs. The file is genbank.rdf. This file is generated from a local, processed version of EMBL, and uses a mixture of Dublin Core and TDWG vocabularies. Here's an example of a single record:

<?xml version="1.0"?>
<rdf:RDF xmlns:dcterms="http://purl.org/dc/terms/" 
xmlns:geo="http://www.w3.org/2003/01/geo/wgs84_pos#" 
xmlns:owl="http://www.w3.org/2002/07/owl#" 
xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" 
xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" 
xmlns:tcommon="http://rs.tdwg.org/ontology/voc/Common#" 
xmlns:toccurrence="http://rs.tdwg.org/ontology/voc/TaxonOccurrence#" 
xmlns:uniprot="http://purl.uniprot.org/core/">
  <uniprot:Molecule rdf:about="http://bio2rdf.org/genbank:EU566842">
    <dcterms:created>2008-07-06</dcterms:created>
    <dcterms:modified>2010-12-23</dcterms:modified>
    <dcterms:title>EU566842</dcterms:title>
    <dcterms:description>Xenopus borealis voucher MHNG:Herp:2644.64 
cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial.</dcterms:description>
    <dcterms:subject rdf:resource="http://purl.uniprot.org/taxonomy/8354"/>
    <dcterms:relation rdf:parseType="Resource">
      <rdf:type rdf:resource="http://rs.tdwg.org/ontology/voc/TaxonOccurrence#TaxonOccurrence"/>
      <toccurrence:identifiedToString>Xenopus borealis</toccurrence:identifiedToString>
      <toccurrence:decimalLatitude>0.66</toccurrence:decimalLatitude>
      <geo:lat>0.66</geo:lat>
      <toccurrence:decimalLongitude>37.5</toccurrence:decimalLongitude>
      <geo:long>37.5</geo:long>
      <toccurrence:verbatimCoordinates>0.66 N 37.5 E</toccurrence:verbatimCoordinates>
      <toccurrence:country>Kenya</toccurrence:country>
      <dcterms:identifier>MHNG:Herp:2644.64</dcterms:identifier>
    </dcterms:relation>
  </uniprot:Molecule>
</rdf:RDF>

I've added this simply so one could do some geographical queries.

Missing links
There are still lots of missing links here (for example, there's no explicit link between NCBI and ION, so we'd need to create this using taxonomic names), and we could add further links to the literature via sequences for taxa. Then there's the lack of geographic data. We could get some of this via georeferenced sequences in GenBank, but there's no RDF for this (Bio2RDF does have RDF for sequences but it ignores the bulk of the organismal metadata such as voucher specimens and latitude and longitude).

In many ways it's this lack of links that was point of my original email. The reality is that "linked data" isn't linked to anything like the extent that makes it useful. Simply pumping out RDF won't get us very far until we tackle this problem (see also my earlier post Linked data that isn't: the failings of RDF).

So, if you think RDF is the way to go, please tell me what you can learn from these data files.

Dark taxa: GenBank in a post-taxonomic world

In an earlier post (Are names really the key to the big new biology?, I questioned Patterson et al.'s assertion in a recent TREE article (doi:10.1016/j.tree.2010.09.004) that names are key to the new biology.

In this post I'm going to revisit this idea by doing a quick analysis of how many species in GenBank have "proper" scientific names, and whether the number of named species has changed over time. My definition of "proper" name is a little loose: anything that had two words, second one starting with a lower case letter, was treated as a proper name. hence, a name like Eptesicus sp. A JLE-2010" is not a proper name, but Eptesicus andersoni is.

Mammals

Since GenBank started, every year has seen some 100-200 mammal species added to the database.


Until around 2003 almost all of these species had proper binomial names, but since then an increasing percentage of species-level taxa haven't been identified to species. In 2010 three-quarters of new tax_ids for mammals weren't identified.

Invertebrates

For "invertebrates" 2010 saw an explosive growth in the number of new taxa sequenced, with nearly 71,000 new taxa added to GenBank.



This coincides with a spectacular drop in the number of properly-named taxa, but even before 2010 the proportion of named invertebrate species in GenBank was in decline: in 2009 just over a half of the species added had binomials.

Bacteria

To put this in perspective, here are the equivalent graphs for bacteria.
Although at the outset most of the bacteria in GenBank had binomial names, pretty quickly the bulk of sequenced bacteria had informal names. In 2010 less than 1% of newly sequenced bacteria had been formerly described.

Dark taxa

For bacteria the graphs are hardly surprising. To get a proper name a bacterium must be cultured, and the vast majority of bacteria haven't been (or can't be) cultured. Hence, microbiologists can gloat at the nomenclatural mess plant and animal taxonomists have to deal with only because microbiologists have a tiny number of names to deal with.

For mammals and invertebrates there's clear a decline in the use of proper names.It would be tempting to suggest that this reflects a decline in the number of taxonomists - there might simply not be enough of them in enough groups to be able to identify and/or describe the taxa being sequenced.

However, if we look at the recent peaks of unnamed animal species, we discover that many have names like Lepidoptera sp. BOLD:AAD7075, indicating that they are DNA Barcodes from the Barcode of Life Data Systems. Of the 62,365 unnamed invertebrates added last year, 54,546 are BOLD sequences that haven't been assigned to a known species. Of the 277 unnamed mammals, 218 are BOLD taxa. Hence, DNA bnacording is flooding Genbank with taxa that lack proper names (and typically are represented by a single DNA bnacode sequence).

There are various ways to interpret these graphs, but for me the message is clear. The bulk of newly added taxa in GenBank are what we might term "dark taxa", that is, taxa that aren't identified to a known species. This doesn't necessarily mean that they are species new to science, we may already have encountered these species before, they may be sitting in museum collections, and have descriptions already published. We simply don't know. As the output from DNA barcoding grows, the number of dark taxa will only increase, and macroscopic biology starts to look a lot like microbiology.


A post-taxonomic world
If we look at the graphs for bacteria, we see that taxonomic names are virtually irrelevant, and yet microbiology seems to be doing fine as a discipline. So, perhaps it's time to think about a post-taxonomic world where taxonomic names, contra Patterson et al., are not that important. We can discover a good deal about organismal biology from GenBank alone (see my post Visualising the symbiome: hosts, parasites, and the Tree of Life for some examples, as well as Rougerie et al. 2010 doi:10.1111/j.1365-294X.2010.04918.x).

This leaves us with two questions:

1. How much biology can we do without taxonomic names?
2. If the lack of taxonomic names limits what we can do (and, playing devil's advocate, this is an open question) how can we speed up linking GenBank sequences to names?

I suspect that the answer to (1) is "quite a lot" (especially if we think like microbiologists). Question (2) is ultimately a question about how fast we can link literature, museum collections, sequences, and phylogenies. If progress to date is any indication, we need to rethink how we do this, and in a hurry, because dark taxa are accumulating at an accelerating rate.

How the analyses were done

Although the NCBI makes a dump of its taxonomic database available via FTP (at ftp://ftp.ncbi.nih.gov/pub/taxonomy/), this dump doesn't have dates for when the taxa were added to the database. However, using the Entrez EUtilities we can get the tax_ids that were published within a given date range. For example, to retrieve all the tax_ids added to the database in December 2010, we set the URL parameters &mindate=2010/12/01 and &maxdate=2010-12-31 to form this URL:

http://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi?db=taxonomy&mindate=2010/12/01&maxdate=2010/12/31&retmax=1000000.

I've set &retmax to a big number to ensure I get all the tax_ids for that month (in this case 23511). I then made a local copy of the NCBI database in MySQL ( instructions here) and queried for all species-level taxa in GenBank. I used a rather crude regular expression REGEXP '^[A-Z][a-z]+ [a-z][a-z]+$' to find just those species names that were likely to be proper scientific names (i.e., no "sp.", "aff.", museum or voucher codes, etc.). To group the species into major taxonomic groups I used the division_id.

Results are available in a Google Spreadsheet.

Visualising the symbiome: hosts, parasites, and the Tree of Life

Back in 2006 in a short post entitled "Building the encyclopedia of life" I wrote that GenBank is a potentially rich source of information on host-parasite relationships. Often sequences of parasites will include information on the name of the host (the example I used was sequence AF131710 from the platyhelminth Ligophorus mugilinus, which records the host as the Flathead mullet Mugil cephalus).

I've always wanted to explore this idea a bit more, and have finally made a start, in part inspired by the recent VIZBI 2011 meeting. I've grabbed a large chunk of GenBank, mined the sequences for host records, and created some simple visualisations of what I'm terming (with tongue firmly in cheek) the "symbiome". Jonathan Eisen will not be happy, but I need a word that describes the complete set of hosts, mutualists, symbionts with which an organism is associated, and "symbiome" seems appropriate.

Human symbiome
To illustrate the idea, below is the human "symbiome". This diagram shows all the taxa in GenBank arranged in a circle, with lines connecting those organisms that have DNA sequences where humans are recorded as their host.



At a glance, we have a lot of bacteria (the gray bar with E. coli) and fungi (blue bar with Yeast), and a few nematodes and arthropods.

Fig tree symbiome
Next up are organisms collected from fig trees (genus Ficus).


Fig trees have wasp pollinators (the dark line landing near the honey bee Apis), as well as nematodes (dark line landing near Caenorhabditis elegans). There are also some associations with fungi and other arthropods.

Which taxa host insects?
Next up is a plot of all associations involving insects and a host.


The diagram is dominated by insect-flowering plant interactions, followed by insect-vertebrate associations (most likely bird and mammal lice).

Which taxa are hosted by insects?
We can reverse the question and ask what organisms are hosted by insects:


Lots of associations between insects and fungi, as well as bacteria, and a few other organisms, such as nematodes, and Plasmodium (the organism which causes malaria).

Frog symbiome
Lastly, below is the symbiome of frogs. "Worms" feature prominently, as well as the fungus that causes chytridiomycosis.

How the visualisation was made

The symbiome visualisations were made as follows. Firstly DNA sequences were downloaded from EMBL and run through a script that extracted as much metadata as possible, including the contents of the host field (where present). I then took the NCBI taxonomy and generated an ordered list of taxa by walking the tree in postorder, which determines where on the circumference of the circle the taxon lies. Pairs of taxa in an association are connected by a quadratic Bezier curve. The illustration was created using SVG.


Next steps
There are several ways this visualisation could be improved. It's based only only a subset of data (I haven't run all of the sequence databases though the parser yet), and the matching of host taxa is based on exact string matching. All manner of weird and wonderful things get entered in the host field, so we'll need some more sophisticated parsing (see "LINNAEUS: A species name identification system for biomedical literature" doi:10.1186/1471-2105-11-85 for a more general discussion of this issue).

The visualisation is fairly crude at this stage. Circle plots like this are fairly simple to create, and pop up in all sorts of situations (e.g., RNA secondary structure methods, which I did some work on years ago). Of course, Circos would be an obvious tool to use to create the visualisations, but the overhead of installing it and learning how to use it meant I took a shortcut and wrote some SVG from scratch.

Although I've focussed on GenBank as a source of data, this visualisation could also be applied to other data. I briefly touched on this in Tag trees: displaying the taxonomy of names in BHL where a page in the Biodiversity Heritage Library contains the names of a flea and it's mammalian hosts. I think these circle plots would be a great way to highlight possible ecological associations mentioned in a text.