There is, I think, something ethereal about i —the square root of minus one. I remember first hearing about it at school. It seemed an odd beast at that time—an intruder hovering on the edge of reality.

Usually familiarity dulls this sense of the bizarre, but in the case of i it was the reverse: over the years the sense of its surreal nature intensified. It seemed that it was impossible to write mathematics that described the real world in …

I and i

BIOE 402. Medical Technology Assessment. 2 or 3 hours. Bioentrepreneur course. Assessment of medical technology in the context of commercialization. Objectives, competition, market share, funding, pricing, manufacturing, growth, and intellectual property; many issues unique to biomedical products. Course Information: 2 undergraduate hours. 3 graduate hours. Prerequisite(s): Junior standing or above and consent of the instructor.

“Bioinformatics” 특집을 내면서

Rapid improvements in sequencing and array-based platforms are resulting in a flood of diverse genome-wide data, including data from exome and whole-genome sequencing, epigenetic surveys, expression profiling of coding and noncoding RNAs, single nucleotide polymorphism (SNP) and copy number profiling, and functional assays. Analysis of these large, diverse data sets holds the promise of a more comprehensive understanding of the genome and its relation to human disease. Experienced and knowledgeable human review is an essential component of this process, complementing computational approaches. This calls for efficient and intuitive visualization tools able to scale to very large data sets and to flexibly integrate multiple data types, including clinical data. However, the sheer volume and scope of data pose a significant challenge to the development of such tools.

Integrative Genomics Viewer

Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P < 0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.

Hundreds of variants clustered in genomic loci and biological pathways affect human height

/pdf/2021-esc-guidelines-on-cardiovascular-disease-prevention-in-14ygu7kat1.pdf

2021 ESC Guidelines on cardiovascular disease prevention in clinical practice

In complex networks it is common for each node to belong to several communities, implying a highly overlapping community structure. Recent advances in benchmarking indicate that the existing community assignment algorithms that are capable of detecting overlapping communities perform well only when the extent of community overlap is kept to modest levels. To overcome this limitation, we introduce a new community assignment algorithm called Greedy Clique Expansion (GCE). The algorithm identifies distinct cliques as seeds and expands these seeds by greedily optimizing a local fitness function. We perform extensive benchmarks on synthetic data to demonstrate that GCE’s good performance is robust across diverse graph topologies. Significantly, GCE is the only algorithm to perform well on these synthetic graphs, in which every node belongs to multiple communities. Furthermore, when put to the task of identifying functional modules in protein interaction data, and college dorm assignments in Facebook friendship data, we find that GCE performs competitively.

/pdf/detecting-highly-overlapping-community-structure-by-greedy-x7e0ebbfrf.pdf

Detecting highly overlapping community structure by greedy clique expansion

In complex networks it is common for each node to belong to several communities, implying a highly overlapping community structure. Recent advances in benchmarking indicate that existing community assignment algorithms that are capable of detecting overlapping communities perform well only when the extent of community overlap is kept to modest levels. To overcome this limitation, we introduce a new community assignment algorithm called Greedy Clique Expansion (GCE). The algorithm identifies distinct cliques as seeds and expands these seeds by greedily optimizing a local fitness function. We perform extensive benchmarks on synthetic data to demonstrate that GCE's good performance is robust across diverse graph topologies. Significantly, GCE is the only algorithm to perform well on these synthetic graphs, in which every node belongs to multiple communities. Furthermore, when put to the task of identifying functional modules in protein interaction data, and college dorm assignments in Facebook friendship data, we find that GCE performs competitively.

Given the increasing popularity of algorithms for overlapping clustering, in particular in social network analysis, quantitative measures are needed to measure the accuracy of a method. Given a set of true clusters, and the set of clusters found by an algorithm, these sets of clusters must be compared to see how similar or different the sets are. A normalized measure is desirable in many contexts, for example assigning a value of 0 where the two sets are totally dissimilar, and 1 where they are identical. A measure based on normalized mutual information, [1], has recently become popular. We demonstrate unintuitive behaviour of this measure, and show how this can be corrected by using a more conventional normalization. We compare the results to that of other measures, such as the Omega index [2].

Normalized Mutual Information to evaluate overlapping community finding algorithms

As research into community finding in social networks progresses, there is a need for algorithms capable of detecting overlapping community structure. Many algorithms have been proposed in recent years that are capable of assigning each node to more than a single community. The performance of these algorithms tends to degrade when the ground-truth contains a more highly overlapping community structure, with nodes assigned to more than two communities. Such highly overlapping structure is likely to exist in many social networks, such as Facebook friendship networks. In this paper we present a scalable algorithm, MOSES, based on a statistical model of community structure, which is capable of detecting highly overlapping community structure, especially when there is variance in the number of communities each node is in. In evaluation on synthetic data MOSES is found to be superior to existing algorithms, especially at high levels of overlap. We demonstrate MOSES on real social network data by analyzing the networks of friendship links between students of five US universities.

/pdf/detecting-highly-overlapping-communities-with-model-based-1upvip1s6k.pdf

Aaron McDaid

Papers

Detecting highly overlapping community structure by greedy clique expansion

Detecting highly overlapping community structure by greedy clique expansion

Normalized Mutual Information to evaluate overlapping community finding algorithms

Detecting Highly Overlapping Communities with Model-Based Overlapping Seed Expansion

Serial and parallel implementations of model-based clustering via parsimonious Gaussian mixture models