Typical human genome

There are fundamental differences between humans and the animals we typically use to study the immune system. We have learned much from genetically manipulated and inbred animal models, but instances in which these findings have been successfully translated to human immunity have been rare.

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Variability in drug efficacy and adverse effects are observed in clinical practice. While the extent of genetic variability in classic pharmacokinetic genes is rather well understood, the role of genetic variation in drug targets is typically less studied.

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Molecular autopsy refers to DNA-based identification of the cause of death. Despite recent attempts to broaden its scope, the term remains typically reserved to sudden unexplained death in young adults. In this study, we aim to showcase the utility of molecular autopsy in defining lethal variants in humans.

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Epigenomic studies that use next generation sequencing experiments typically rely on the alignment of reads to a reference sequence. However, because of genetic diversity and the diploid nature of the human genome, we hypothesize that using a generic reference could lead to incorrectly mapped reads and bias downstream results.

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Typical human genome differs from the reference genome at 4-5 million sites. This diversity is increasingly catalogued in repositories such as ExAC/gnomAD, consisting of >15,000 whole-genomes and >126,000 exome sequences from different individuals. Despite this enormous diversity, resequencing data workflows are still based on a single human reference genome. Identification and genotyping of genetic variants is typically carried out on short-read data aligned to a single reference, disregarding the underlying variation.

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This discrepancy between tools underscores the fact that computation algorithms still cannot perfectly evaluate evidence; especially when provided with small amounts of supporting data as is typical in fusion detection. We assert that when evidence is provided in an easily digestible form, humans are more proficient in identifying true positives from false positives.

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Olfactory receptor (OR) genes are the largest multi-gene family in the mammalian genome, with 874 in human and 1483 loci in mouse (including pseudogenes). The expansion of the OR gene repertoire has occurred through numerous duplication events followed by diversification, resulting in a large number of highly similar paralogous genes.

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Hypothyroidism is a common complex endocrinopathy that typically has an autoimmune etiology, and it affects both humans and dogs. Genetic and environmental factors are both known to play important roles in the disease development. In this study, we sought to identify the genetic risk factors potentially involved in the susceptibility to the disease in the high-risk Giant Schnauzer dog breed.

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Opportunistic pathogens are important for clinical practice as they often cause antibiotic-resistant infections. However, little is documented for many emerging opportunistic pathogens and their biological characteristics.

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Efforts to elucidate the function of enhancers in vivo are underway but their vast numbers alongside differing enhancer architectures make it difficult to determine their impact on gene activity. By systematically annotating multiple mouse tissues with super- and typical-enhancers, we have explored their relationship with gene function and phenotype.

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Low pass sequencing has been proposed as a cost-effective alternative to genotyping arrays to identify genetic variants that influence multifactorial traits in humans. For common diseases this typically has required both large sample sizes and comprehensive variant discovery.

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Single-cell (sc) sequencing performs unbiased profiling of individual cells and enables evaluation of less prevalent cellular populations, often missed using bulk sequencing. However, the scale and the complexity of the sc datasets poses a great challenge in its utility and this problem is further exacerbated when working with larger datasets typically generated by consortium efforts.

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Metagenomics is a genomics research discipline devoted to the study of microbial communities in environmental samples and human and animal organs and tissues. Sequenced metagenomic samples usually comprise reads from a large number of different bacterial communities and hence tend to result in large file sizes, typically ranging between 1–10 GB.

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Somatic mutations accumulate in human cells throughout life. Some may have no adverse consequences, but some of them may lead to cancer. A cancer genome is typically unstable, and thus more mutations can accumulate in the DNA of cancer cells.

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The main purpose of this study is to supplement and update previous data we collected on the extent to which electronic office equipment is turned off or automatically enters a low power state when not in active use. In addition, it provides data on numbers and types of office equipment, and helps identify trends in office equipment usage patterns. These data improve our estimates of typical unit energy consumption and savings for each equipment type, and enables the ENERGY STAR Office Equipment program to focus future effort on products...

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The state of a normal or diseased cell is determined by external signals and by its intrinsic gene expression pat- tern. Transcription factors (TFs) are major regulators of gene expression, typically controlling more than one gene and acting in concert. Such TF-gene interactions can be described as networks, which are crucial to understand hierarchies of gene expression regulation. The identifica- tion of TF binding sites (TFBSs) in genomic DNA sequences has played an important role in predicting tran- scriptional networks.

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Long terminal repeats (LTR) of endogenous retroviruses com-prise about 8% of human genome. Typical LTR contains a set of regulatory elements: promoters, enhancers, polyadenilation sites, which can take part in neighbouring genes expression regu-lation.

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It is important to understand at the outset the natural hydrochemical conditions that exist in aquifer systems, as these provide the necessary baseline from which quality changes caused by human impacts can be determined. The natural hydrochemical conditions may also affect the behaviour of some pollutants. Because groundwater movement is typically slow and residence times long, there is potential for interaction between the water and the rock material through which it passes.

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Canada’s child health research community runs both deep and broad. There are 15 primary research institutions across Canada, with close to 1500 researchers, with total funding of $420 million. Approximately 270 workers have a child genomics focus (see Supporting Document A). Some of Canada’s best-known and most active human genomics researchers undertake their research in Child Health Research Institutes (e.g.

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In this paper we come closer to this strategy as we test the hypothesis that a linear combination of selected past idiosyncratic shocks recorded by the equity price of a given firm helps track and forecast aggregate business cycle fluctuations. At this stage we like to anticipate, however, that, somewhat against the benefit achieved by pooling many forecasts suggested by this strand of literature, our conclusions are that pooling individual information does not typically represent a good alternative to a situation in which instead a small number of regressors (i.e.

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