Genomics Today and Tomorrow presentation
Below is a Slideshare link/widget to a presentation I gave at the Genomics Today and Tomorrow event in Uppsala a couple of weeks ago (March 19, 2015).
I spoke after Jonathan Bingham of Google Genomics and talked a little bit about how APIs, machine learning, and what I call “querying by dataset” could make life easier for bioinformaticians working on data integration. In particular, I gave examples of a few types of queries that one would like to be able to do against “all public data” (slides 19-24).
Not long after, I saw this preprint (called “Large-Scale Search of Transcriptomic Read Sets with Sequence Bloom Trees”) that seems to provide part of the functionality that I was envisioning – in particular, the ability to query public sequence repositories by content (using a sequence as a query), rather than by annotation (metadata). The beginning of the abstract goes like this:
Enormous databases of short-read RNA-seq sequencing experiments such as the NIH Sequence Read Archive (SRA) are now available. However, these collections remain difficult to use due to the inability to search for a particular expressed sequence. A natural question is which of these experiments contain sequences that indicate the expression of a particular sequence such as a gene isoform, lncRNA, or uORF. However, at present this is a computationally demanding question at the scale of these databases. We introduce an indexing scheme, the Sequence Bloom Tree (SBT), to support sequence-based querying of terabase-scale collections of thousands of short-read sequencing experiments.