Browsing by Subject "Genome, Human"
Now showing items 1-20 of 28
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29 mammalian genomes reveal novel exaptations of mobile elements for likely regulatory functions in the human genome.
(PloS one, 2012-01)Recent research supports the view that changes in gene regulation, as opposed to changes in the genes themselves, play a significant role in morphological evolution. Gene regulation is largely dependent on transcription ... -
A cellular genome-wide association study reveals human variation in microtubule stability and a role in inflammatory cell death.
(Mol Biol Cell, 2014-01)Pyroptosis is proinflammatory cell death that occurs in response to certain microbes. Activation of the protease caspase-1 by molecular platforms called inflammasomes is required for pyroptosis. We performed a cellular ... -
A genome-wide association study of variants associated with acquisition of Staphylococcus aureus bacteremia in a healthcare setting.
(BMC Infect Dis, 2014-02-13)BACKGROUND: Humans vary in their susceptibility to acquiring Staphylococcus aureus infection, and research suggests that there is a genetic basis for this variability. Several recent genome-wide association studies (GWAS) ... -
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 ... -
Alpha satellite DNA biology: finding function in the recesses of the genome.
(Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology, 2018-09)Repetitive DNA, formerly referred to by the misnomer "junk DNA," comprises a majority of the human genome. One class of this DNA, alpha satellite, comprises up to 10% of the genome. Alpha satellite is enriched at all human ... -
An Atlas of Genetic Variation Linking Pathogen-Induced Cellular Traits to Human Disease.
(Cell host & microbe, 2018-08)Pathogens have been a strong driving force for natural selection. Therefore, understanding how human genetic differences impact infection-related cellular traits can mechanistically link genetic variation to disease ... -
Can Genetics Predict Response to Complex Behavioral Interventions? Evidence from a Genetic Analysis of the Fast Track Randomized Control Trial.
(J Policy Anal Manage, 2015)Early interventions are a preferred method for addressing behavioral problems in high-risk children, but often have only modest effects. Identifying sources of variation in intervention effects can suggest means to improve ... -
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), ... -
Endangered species hold clues to human evolution.
(The Journal of heredity, 2010-07)We report that 18 conserved, and by extension functional, elements in the human genome are the result of retroposon insertions that are evolving under purifying selection in mammals. We show evidence that 1 of the 18 elements ... -
Evidence-ranked motif identification.
(Genome Biol, 2010)cERMIT is a computationally efficient motif discovery tool based on analyzing genome-wide quantitative regulatory evidence. Instead of pre-selecting promising candidate sequences, it utilizes information across all sequence ... -
Generalized admixture mapping for complex traits.
(G3 (Bethesda), 2013-07-08)Admixture mapping is a popular tool to identify regions of the genome associated with traits in a recently admixed population. Existing methods have been developed primarily for identification of a single locus influencing ... -
Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.
(PLoS Genet, 2010-04-29)Lipoprotein-associated phospholipase A(2) (Lp-PLA(2)) is an emerging risk factor and therapeutic target for cardiovascular disease. The activity and mass of this enzyme are heritable traits, but major genetic determinants ... -
Genome-wide gene-environment interaction analysis for asbestos exposure in lung cancer susceptibility.
(Carcinogenesis, 2012-08)Asbestos exposure is a known risk factor for lung cancer. Although recent genome-wide association studies (GWASs) have identified some novel loci for lung cancer risk, few addressed genome-wide gene-environment interactions. ... -
Genome-wide linkage analysis for human longevity: Genetics of Healthy Aging Study.
(Aging Cell, 2013-04)Clear evidence exists for heritability of human longevity, and much interest is focused on identifying genes associated with longer lives. To identify such longevity alleles, we performed the largest genome-wide linkage ... -
Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.
(Nat Genet, 2014-05)Diffuse intrinsic pontine glioma (DIPG) is a fatal brain cancer that arises in the brainstem of children, with no effective treatment and near 100% fatality. The failure of most therapies can be attributed to the delicate ... -
Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences.
(Genome biology, 2014-06-30)BACKGROUND:Population differentiation has proved to be effective for identifying loci under geographically localized positive selection, and has the potential to identify loci subject to balancing selection. We have previously ... -
Identification of Chiari Type I Malformation subtypes using whole genome expression profiles and cranial base morphometrics.
(BMC medical genomics, 2014-06)<h4>Background</h4>Chiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the foramen magnum at the base of the skull, resulting in significant neurologic morbidity. As CMI patients ... -
Identification of cis-suppression of human disease mutations by comparative genomics.
(Nature, 2015-08)Patterns of amino acid conservation have served as a tool for understanding protein evolution. The same principles have also found broad application in human genomics, driven by the need to interpret the pathogenic potential ... -
Inter-chromosomal level of genome organization and longevity-related phenotypes in humans.
(Age (Dordr), 2013-04)Studies focusing on unraveling the genetic origin of health span in humans assume that polygenic, aging-related phenotypes are inherited through Mendelian mechanisms of inheritance of individual genes. We use the Framingham ... -
Joint influence of small-effect genetic variants on human longevity.
(Aging (Albany NY), 2010-09)The results of genome-wide association studies of complex traits, such as life span or age at onset of chronic disease, suggest that such traits are typically affected by a large number of small-effect alleles. Individually ...
