Related papers: Introduction to the Special Issue: Genome-Wide Ass…
We propose the notion of association schemoids generalizing that of association schemes from small categorical points of view. In particular, a generalization of the Bose-Mesner algebra of an association scheme appears as a subalgebra in…
The present issue is the first of of a two-volume review devoted to gamma-ray astronomy above 100 MeV which has witnessed considerable progress over the last 20 years. The motivations for research in this area are explained, the follow-on…
To understand how genetic variants in human genomes manifest in phenotypes -- traits like height or diseases like asthma -- geneticists have sequenced and measured hundreds of thousands of individuals. Geneticists use this data to build…
Reference population databases are an essential tool in variant and gene interpretation. Their use guides the identification of pathogenic variants amidst the sea of benign variation present in every human genome, and supports the discovery…
Recently more and more evidence suggests that rare variants with much lower minor allele frequencies play significant roles in disease etiology. Advances in next-generation sequencing technologies will lead to many more rare variants…
A compendium for outsiders.
A survey of the contributions to the Special Topic on Data-enabled Theoretical Chemistry is given, including a glossary of relevant machine learning terms.
Meta-analysis of genome-wide association studies is increasingly popular and many meta-analytic methods have been recently proposed. A majority of meta-analytic methods combine information from multiple studies by assuming that studies are…
In The Cancer Genome Atlas (TCGA) data set, there are many interesting nonlinear dependencies between pairs of genes that reveal important relationships and subtypes of cancer. Such genomic data analysis requires a rapid, powerful and…
Numerous challenges persist that delay clinical interpretation of human genetic variants, to name a few: (1) un- structured PubMed articles are the most abundant source of evidence, yet their variant annotations are difficult to query…
In this study, we present a novel approach for predicting genomic information from medical imaging modalities using a transformer-based model. We aim to bridge the gap between imaging and genomics data by leveraging transformer networks,…
We introduce a pipeline to easily generate collections of web accessible UCSC genome browsers interrelated by an alignment. Using the alignment, all annotations and the alignment itself can be efficiently viewed with reference to any genome…
Series of short contributions that are part of Nobel Symposium 162 - Microfluidics arXiv:1712.08369.
Comment on "Enhanced transmission through periodic arrays of subwavelength holes: the role of localized waveguide resonances" [Phys.Rev.Lett. 96, 233901 (2006)]
Identifying genes associated with complex human diseases is one of the main challenges of human genetics and computational medicine. To answer this question, millions of genetic variants get screened to identify a few of importance. To…
These lecture notes introduce key concepts of mathematical population genetics within the most elementary setting and describe a few recent applications to microbial evolution experiments. Pointers to the literature for further reading are…
Increasing evidence has shown that gene-gene interactions have important effects on biological processes of human diseases. Due to the high dimensionality of genetic measurements, existing interaction analysis methods usually suffer from a…
In this paper, we consider the q-extensions of Boole polynomials. From those polynomials, we derive some new and interesting properties and identities related to special polynomials.
This is a brief and gentle introduction, aimed at graduate students, to the subject of model subspaces of the Hardy space.
Genome-wide association studies (GWAS) suggests that a complex disease is typically affected by many genetic variants with small or moderate effects. Identification of these risk variants remains to be a very challenging problem.…