Research Topics
Genomes and GenesSpecies | Tomas Marques-BonetSummaryAffiliation: University of Washington Country: USA Publications
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Detail Information
Publications
The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangementsTomas Marques-Bonet
Unitat de Biologia Evolutiva Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain
BMC Genomics 9:384. 2008....
Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analysesBelen Hurle
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
BMC Evol Biol 11:23. 2011....
Sequencing primate genomes: what have we learned?Tomas Marques-Bonet
Department of Genome Sciences, University of Washington and the Howard Hughes Medical Institute, Seattle, Washington 98105, USA
Annu Rev Genomics Hum Genet 10:355-86. 2009....
The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2Mario Ventura
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA
Genome Res 22:1036-49. 2012..Our findings highlight the complex interplay between duplicated sequences and chromosomal rearrangements that rapidly alter the cytogenetic landscape in a short period of evolutionary time...
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease riskFrancesca Antonacci
Department of Genome Sciences, University of Washington, Seattle, Washington, USA
Nat Genet 42:745-50. 2010..Notably, we show that the S2 configuration harbors directly oriented duplications, specifically predisposing this chromosome to disease-associated rearrangement...
Death and resurrection of the human IRGM geneCemalettin Bekpen
Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America
PLoS Genet 5:e1000403. 2009..Such dynamism in structure and evolution may be critical for a gene family locked in an arms race with an ever-changing repertoire of intracellular parasites...
A burst of segmental duplications in the genome of the African great ape ancestorTomas Marques-Bonet
Department of Genome Sciences, University of Washington and the Howard Hughes Medical Institute, Seattle, Washington 98195, USA
Nature 457:877-81. 2009....
Personalized copy number and segmental duplication maps using next-generation sequencingCan Alkan
Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
Nat Genet 41:1061-7. 2009..2 x 10(-16)). Our method can distinguish between different copies of highly identical genes, providing a more accurate assessment of gene content and insight into functional constraint without the limitations of array-based technology...
Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzeeMario Ventura
Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA
Genome Res 21:1640-9. 2011..Our analysis suggests that the chimpanzee and gorilla genomes are structurally more derived than either orangutan or human genomes...
The origins and impact of primate segmental duplicationsTomas Marques-Bonet
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA
Trends Genet 25:443-54. 2009..Although many genomes will be sequenced in the future, resolution of this aspect of genomic architecture still requires high quality sequences and detailed analyses...
Characterization of six human disease-associated inversion polymorphismsFrancesca Antonacci
Department of Genome Sciences, Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA
Hum Mol Genet 18:2555-66. 2009..In these cases, discovery and genotyping methods based on SNPs may be confounded and molecular cytogenetics remains the only method to genotype these inversions...
Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sitesSanthosh Girirajan
Department of Genome Sciences, Howard Hughes Medical Institute, University of Washington School of Medicine, Seattle, Washington 98195, USA
Genome Res 19:178-90. 2009....
Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolutionZhaoshi Jiang
Department of Genome Sciences, University of Washington School of Medicine and the Howard Hughes Medical Institute, 1705 NE Pacific Street, Seattle, Washington 98195, USA
Nat Genet 39:1361-8. 2007....
