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High-throughput shotgun sequence data makes it possible in principle to accurately estimate population genetic parameters without confounding by SNP ascertainment bias. One such statistic of interest is the proportion of heterozygous sites…
We now need more than ever to make genome analysis more intelligent. We need to read, analyze, and interpret our genomes not only quickly, but also accurately and efficiently enough to scale the analysis to population level. There currently…
This paper will argue that one of the biggest challenges for livestock genomics is to make whole-genome sequencing and functional genomics applicable to breeding practice. It discusses potential explanations for why it is so difficult to…
Investigation of the underlying physics or biology from empirical data requires a quantifiable notion of similarity - when do two observed data sets indicate nearly identical generating processes, and when they do not. The discriminating…
Astronomy has a distinguished tradition of using technology to accelerate the quality and effectiveness of science, and data-intensive initiatives such as the Virtual Observatory lead the way amongst other fields of science. However,…
The stellar populations of galaxies contain a wealth of detailed information. From the youngest, most massive stars, to almost invisible remnants, the history of star formation is encoded in the stars that make up a galaxy. Extracting some,…
Current metagenomic analysis algorithms require significant computing resources, can report excessive false positives (type I errors), may miss organisms (type II errors / false negatives), or scale poorly on large datasets. This paper…
Data quality is vital for user experience in products reliant on data. As solutions for data quality problems, researchers have developed various taxonomies for different types of issues. However, although some of the existing taxonomies…
Large cosmological datasets have been probing the properties of our universe and constraining the parameters of dark matter and dark energy with increasing precision. Deep learning techniques have shown potential to be smarter, and to…
The exploration of vast genotype spaces poses fundamental challenges for evolving populations. As the number of genotypes encoding viable phenotypes grows exponentially with genome length, populations can only explore a tiny fraction of…
Big Data are revolutionizing nearly every aspect of the modern society. One area where this can have a profound positive societal impact is the field of Health Care Informatics (HCI), which faces many challenges. The key idea behind this…
The cost of deriving actionable knowledge from large datasets has been decreasing thanks to a convergence of positive factors: low cost data generation, inexpensively scalable storage and processing infrastructure (cloud), software…
In order to associate complex traits with genetic polymorphisms, genome-wide association studies process huge datasets involving tens of thousands of individuals genotyped for millions of polymorphisms. When handling these datasets, which…
Eukaryote genomes contain excessively introns, inter-genic and other non-genic sequences that appear to have no vital functional role or phenotype manifestation. Their existence, a long-standing puzzle, is viewed from the principle of…
Data mining environment produces a large amount of data, that need to be analyzed, patterns have to be extracted from that to gain knowledge. In this new era with boom of data both structured and unstructured, in the field of genomics,…
Our Universe is a vast, tantalizing enigma - a mystery that has aroused humankind's innate curiosity for eons. Begging questions on alien lifeforms have been thus far unfruitful, even with the bounding advancements we have embarked upon in…
Enabling clinicians and researchers to directly interact with global genomic data resources by removing technological barriers is vital for medical genomics. AskBeacon enables Large Language Models to be applied to securely shared cohorts…
Clinicians decisions are becoming more and more evidence-based meaning in no other field the big data analytics so promising as in healthcare. Due to the sheer size and availability of healthcare data, big data analytics has revolutionized…
Large genomic datasets are now created through numerous activities, including recreational genealogical investigations, biomedical research, and clinical care. At the same time, genomic data has become valuable for reuse beyond their…
Public health is the most recent of the biomedical sciences to be seduced by the trendy moniker "precision." Advocates for "precision public health" (PPH) call for a data-driven, computational approach to public health, leveraging swaths of…