Search Results - "Iskow, Rebecca"
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Exploring the role of copy number variants in human adaptation
Published in Trends in genetics (01-06-2012)“…Over the past decade, the ubiquity of copy number variants (CNVs, the gain or loss of genomic material) in the genomes of healthy humans has become apparent…”
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Natural Mutagenesis of Human Genomes by Endogenous Retrotransposons
Published in Cell (25-06-2010)“…Two abundant classes of mobile elements, namely Alu and L1 elements, continue to generate new retrotransposon insertions in human genomes. Estimates suggest…”
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3
Landscape of Somatic Retrotransposition in Human Cancers
Published in Science (American Association for the Advancement of Science) (24-08-2012)“…Transposable elements (TEs) are abundant in the human genome, and some are capable of generating new insertions through RNA intermediates. In cancer, the…”
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4
Which transposable elements are active in the human genome?
Published in Trends in genetics (01-04-2007)“…Although a large proportion (44%) of the human genome is occupied by transposons and transposon-like repetitive elements, only a small proportion (<0.05%) of…”
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5
Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division
Published in Genome research (01-12-2013)“…In primates and other animals, reverse transcription of mRNA followed by genomic integration creates retroduplications. Expressed retroduplications are either…”
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6
Primate genome architecture influences structural variation mechanisms and functional consequences
Published in Proceedings of the National Academy of Sciences - PNAS (24-09-2013)“…Although nucleotide resolution maps of genomic structural variants (SVs) have provided insights into the origin and impact of phenotypic diversity in humans,…”
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Recently Mobilized Transposons in the Human and Chimpanzee Genomes
Published in American journal of human genetics (01-04-2006)“…Transposable genetic elements are abundant in the genomes of most organisms, including humans. These endogenous mutagens can alter genes, promote genomic…”
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Balancing selection on a regulatory region exhibiting ancient variation that predates human-neandertal divergence
Published in PLoS genetics (01-04-2013)“…Ancient population structure shaping contemporary genetic variation has been recently appreciated and has important implications regarding our understanding of…”
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Refinement of primate copy number variation hotspots identifies candidate genomic regions evolving under positive selection
Published in Genome biology (31-05-2011)“…Copy number variants (CNVs), defined as losses and gains of segments of genomic DNA, are a major source of genomic variation. In this study, we identified over…”
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10
Regulatory element copy number differences shape primate expression profiles
Published in Proceedings of the National Academy of Sciences - PNAS (31-07-2012)“…Gene expression differences are shaped by selective pressures and contribute to phenotypic differences between species. We identified 964 copy number…”
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Serological and phylogenetic evidence of monotypic immune responses to different mumps virus strains
Published in Vaccine (24-03-2006)“…The recent resurgence of mumps epidemics in many countries with ongoing vaccination programs along with evidence of antigenic diversity among mumps virus…”
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Changes in mumps virus neurovirulence phenotype associated with quasispecies heterogeneity
Published in Virology (New York, N.Y.) (20-06-2006)“…Mumps virus is a highly neurotropic virus with evidence of central nervous system invasion (CNS) in approximately half of all cases of infection. In countries…”
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Increased Genomic Integrity of an Improved Protein‐Based Mouse Induced Pluripotent Stem Cell Method Compared With Current Viral‐Induced Strategies
Published in Stem cells translational medicine (01-05-2014)“…This study identified an increased copy number variant (CNV) content in lenti‐miPSCs and retro‐miPSCs (29∼53 CNVs) compared with p‐miPSCs (9∼10 CNVs),…”
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14
Analysis of somatic retrotransposition in human cancers
Published in BMC proceedings (01-10-2012)“…Doc number: O23…”
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Refinement of primate copy number variationhotspots identifies candidate genomic regions evolving under positive selection
Published in Genome biology (31-05-2011)Get full text
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16
Balancing Selection on a Regulatory Region Exhibiting Ancient Variation That Predates Human-Neandertal Divergence: e1003404
Published in PLoS genetics (01-04-2013)“…Ancient population structure shaping contemporary genetic variation has been recently appreciated and has important implications regarding our understanding of…”
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Novel germline and somatic retrotransposon insertions in humans
Published 01-01-2009“…Human genetic variation can cause phenotypic differences as well as provide the substrate for evolutionary forces. Single nucleotide polymorphisms (SNPs) are…”
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