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Browsing by Subject "Genomics"
Now showing items 1-20 of 66
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A Cloud-Based Infrastructure for Cancer Genomics
(2020)The advent of new genomic approaches, particularly next generation sequencing (NGS) has resulted in explosive growth of biological data. As the size of biological data keeps growing at exponential rates, new methods for ... -
A Genocentric Approach to Discovery of Mendelian Disorders.
(American journal of human genetics, 2019-11)The advent of inexpensive, clinical exome sequencing (ES) has led to the accumulation of genetic data from thousands of samples from individuals affected with a wide range of diseases, but for whom the underlying genetic ... -
A high-resolution map of human evolutionary constraint using 29 mammals.
(Nature, 2011-10-12)The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes. We confirm that at least 5.5% of the human genome ... -
Adaptive sequence divergence forged new neurodevelopmental enhancers in humans.
(Cell, 2022-11)Searches for the genetic underpinnings of uniquely human traits have focused on human-specific divergence in conserved genomic regions, which reflects adaptive modifications of existing functional elements. However, the ... -
An Exploration into Fern Genome Space.
(Genome Biol Evol, 2015-08-26)Ferns are one of the few remaining major clades of land plants for which a complete genome sequence is lacking. Knowledge of genome space in ferns will enable broad-scale comparative analyses of land plant genes and genomes, ... -
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
(Nature, 2002-12-05)Only a small proportion of the mouse genome is transcribed into mature messenger RNA transcripts. There is an international collaborative effort to identify all full-length mRNA transcripts from the mouse, and to ensure ... -
Assessing the utility of thermodynamic features for microRNA target prediction under relaxed seed and no conservation requirements.
(PLoS One, 2011)BACKGROUND: Many computational microRNA target prediction tools are focused on several key features, including complementarity to 5'seed of miRNAs and evolutionary conservation. While these features allow for successful ... -
Avian genomes. A flock of genomes. Introduction.
(Science, 2014-12-12) -
Avianbase: a community resource for bird genomics.
(Genome Biol, 2015-01-29)Giving access to sequence and annotation data for genome assemblies is important because, while facilitating research, it places both assembly and annotation quality under scrutiny, resulting in improvements to both. Therefore ... -
Behavior genetics and postgenomics.
(Behav Brain Sci, 2012-10)The science of genetics is undergoing a paradigm shift. Recent discoveries, including the activity of retrotransposons, the extent of copy number variations, somatic and chromosomal mosaicism, and the nature of the epigenome ... -
Between two fern genomes.
(Gigascience, 2014)Ferns are the only major lineage of vascular plants not represented by a sequenced nuclear genome. This lack of genome sequence information significantly impedes our ability to understand and reconstruct genome evolution ... -
Chiropteran types I and II interferon genes inferred from genome sequencing traces by a statistical gene-family assembler.
(BMC Genomics, 2010-07-21)BACKGROUND: The rate of emergence of human pathogens is steadily increasing; most of these novel agents originate in wildlife. Bats, remarkably, are the natural reservoirs of many of the most pathogenic viruses in humans. ... -
Comparative genomics reveals insights into avian genome evolution and adaptation.
(Science, 2014-12-12)Birds are the most species-rich class of tetrapod vertebrates and have wide relevance across many research fields. We explored bird macroevolution using full genomes from 48 avian species representing all major extant clades. ... -
Comparative genomics reveals molecular features unique to the songbird lineage.
(BMC Genomics, 2014-12-13)BACKGROUND: Songbirds (oscine Passeriformes) are among the most diverse and successful vertebrate groups, comprising almost half of all known bird species. Identifying the genomic innovations that might be associated with ... -
Concordance Between Genomic Alterations Detected by Tumor and Germline Sequencing: Results from a Tertiary Care Academic Center Molecular Tumor Board.
(The oncologist, 2023-01)<h4>Objective</h4>The majority of tumor sequencing currently performed on cancer patients does not include a matched normal control, and in cases where germline testing is performed, it is usually run independently of tumor ... -
Deciding among green plants for whole genome studies.
(Trends in plant science, 2002-12)Recent comparative DNA-sequencing studies of chloroplast, mitochondrial and ribosomal genes have produced an evolutionary tree relating the diversity of green-plant lineages. By coupling this phylogenetic framework to the ... -
Detecting structure of haplotypes and local ancestry.
(Genetics, 2014-03)We present a two-layer hidden Markov model to detect the structure of haplotypes for unrelated individuals. This allows us to model two scales of linkage disequilibrium (one within a group of haplotypes and one between groups), ... -
Dissecting the Functional Impacts of Non-Coding Genetic Variation
(2016)A large proportion of the variation in traits between individuals can be attributed to variation in the nucleotide sequence of the genome. The most commonly studied traits in human genetics are related to disease and disease ... -
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
(Journal of cardiovascular translational research, 2014-04)Despite the significant progress that has been made in identifying disease-associated mutations, the utility of the hypertrophic cardiomyopathy (HCM) genetic test is limited by a lack of understanding of the background genetic ... -
DOK2 inhibits EGFR-mutated lung adenocarcinoma.
(PloS one, 2013-01)Somatic mutations in the EGFR proto-oncogene occur in ~15% of human lung adenocarcinomas and the importance of EGFR mutations for the initiation and maintenance of lung cancer is well established from mouse models and cancer ...
