5,927 research outputs found
From a Conceptual Model to a Knowledge Graph for Genomic Datasets
Data access at genomic repositories is problematic, as data
is described by heterogeneous and hardly comparable metadata. We previously
introduced a unified conceptual schema, collected metadata in a
single repository and provided classical search methods upon them. We
here propose a new paradigm to support semantic search of integrated
genomic metadata, based on the Genomic Knowledge Graph, a semantic
graph of genomic terms and concepts, which combines the original
information provided by each source with curated terminological content
from specialized ontologies.
Commercial knowledge-assisted search is designed for transparently
supporting keyword-based search without explaining inferences; in biology,
inference understanding is instead critical. For this reason, we propose
a graph-based visual search for data exploration; some expert users
can navigate the semantic graph along the conceptual schema, enriched
with simple forms of homonyms and term hierarchies, thus understanding
the semantic reasoning behind query results
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Multiomics modeling of the immunome, transcriptome, microbiome, proteome and metabolome adaptations during human pregnancy.
MotivationMultiple biological clocks govern a healthy pregnancy. These biological mechanisms produce immunologic, metabolomic, proteomic, genomic and microbiomic adaptations during the course of pregnancy. Modeling the chronology of these adaptations during full-term pregnancy provides the frameworks for future studies examining deviations implicated in pregnancy-related pathologies including preterm birth and preeclampsia.ResultsWe performed a multiomics analysis of 51 samples from 17 pregnant women, delivering at term. The datasets included measurements from the immunome, transcriptome, microbiome, proteome and metabolome of samples obtained simultaneously from the same patients. Multivariate predictive modeling using the Elastic Net (EN) algorithm was used to measure the ability of each dataset to predict gestational age. Using stacked generalization, these datasets were combined into a single model. This model not only significantly increased predictive power by combining all datasets, but also revealed novel interactions between different biological modalities. Future work includes expansion of the cohort to preterm-enriched populations and in vivo analysis of immune-modulating interventions based on the mechanisms identified.Availability and implementationDatasets and scripts for reproduction of results are available through: https://nalab.stanford.edu/multiomics-pregnancy/.Supplementary informationSupplementary data are available at Bioinformatics online
From Questions to Effective Answers: On the Utility of Knowledge-Driven Querying Systems for Life Sciences Data
We compare two distinct approaches for querying data in the context of the
life sciences. The first approach utilizes conventional databases to store the
data and intuitive form-based interfaces to facilitate easy querying of the
data. These interfaces could be seen as implementing a set of "pre-canned"
queries commonly used by the life science researchers that we study. The second
approach is based on semantic Web technologies and is knowledge (model) driven.
It utilizes a large OWL ontology and same datasets as before but associated as
RDF instances of the ontology concepts. An intuitive interface is provided that
allows the formulation of RDF triples-based queries. Both these approaches are
being used in parallel by a team of cell biologists in their daily research
activities, with the objective of gradually replacing the conventional approach
with the knowledge-driven one. This provides us with a valuable opportunity to
compare and qualitatively evaluate the two approaches. We describe several
benefits of the knowledge-driven approach in comparison to the traditional way
of accessing data, and highlight a few limitations as well. We believe that our
analysis not only explicitly highlights the specific benefits and limitations
of semantic Web technologies in our context but also contributes toward
effective ways of translating a question in a researcher's mind into precise
computational queries with the intent of obtaining effective answers from the
data. While researchers often assume the benefits of semantic Web technologies,
we explicitly illustrate these in practice
Techniques for clustering gene expression data
Many clustering techniques have been proposed for the analysis of gene expression data obtained from microarray experiments. However, choice of suitable method(s) for a given experimental dataset is not straightforward. Common approaches do not translate well and fail to take account of the data profile. This review paper surveys state of the art applications which recognises these limitations and implements procedures to overcome them. It provides a framework for the evaluation of clustering in gene expression analyses. The nature of microarray data is discussed briefly. Selected examples are presented for the clustering methods considered
Entropy-scaling search of massive biological data
Many datasets exhibit a well-defined structure that can be exploited to
design faster search tools, but it is not always clear when such acceleration
is possible. Here, we introduce a framework for similarity search based on
characterizing a dataset's entropy and fractal dimension. We prove that
searching scales in time with metric entropy (number of covering hyperspheres),
if the fractal dimension of the dataset is low, and scales in space with the
sum of metric entropy and information-theoretic entropy (randomness of the
data). Using these ideas, we present accelerated versions of standard tools,
with no loss in specificity and little loss in sensitivity, for use in three
domains---high-throughput drug screening (Ammolite, 150x speedup), metagenomics
(MICA, 3.5x speedup of DIAMOND [3,700x BLASTX]), and protein structure search
(esFragBag, 10x speedup of FragBag). Our framework can be used to achieve
"compressive omics," and the general theory can be readily applied to data
science problems outside of biology.Comment: Including supplement: 41 pages, 6 figures, 4 tables, 1 bo
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