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DAVID L. BRAFF TIFFANY A. GREENWOOD NEAL R. SWERDLOW GREGORY A. LIGHT NICHOLAS J. SCHORK The Investigators of the Consortium on the Genetics of Schizophrenia 《World psychiatry》2008,7(1):11-18
The search for the genetic architecture of schizophrenia has employed multiple, often converging strategies. One such strategy entails the use of tracing the heritability and neurobiology of endophenotypes. Endophenotypes are quantifiable traits not visible to the eye, which are thought to reflect an intermediate place on the path from genes to disorder. Endophenotype abnormalities in domains such as neurophysiology or neurocognition occur in schizophrenia patients as well as their clinically “unaffected” relatives, and reflect polymorphisms in the DNA of schizophrenia spectrum subjects which create vulnerability to developing schizophrenia. By identifying the single nucleotide polymorphisms (SNPs) associated with endophenotypes in schizophrenia, psychiatric neuroscientists can select new strong inference based molecular targets for the treatment of schizophrenia. 相似文献
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Pier?Francesco Palamara Laurent?C. Francioli Peter?R. Wilton Giulio Genovese Alexander Gusev Hilary?K. Finucane Sriram Sankararaman Genome of the Netherlands Consortium Shamil?R. Sunyaev Paul?I.W. de?Bakker John Wakeley Itsik Pe’er Alkes?L. Price 《American journal of human genetics》2015,97(6):775-789
The rate at which human genomes mutate is a central biological parameter that has many implications for our ability to understand demographic and evolutionary phenomena. We present a method for inferring mutation and gene-conversion rates by using the number of sequence differences observed in identical-by-descent (IBD) segments together with a reconstructed model of recent population-size history. This approach is robust to, and can quantify, the presence of substantial genotyping error, as validated in coalescent simulations. We applied the method to 498 trio-phased sequenced Dutch individuals and inferred a point mutation rate of 1.66 × 10−8 per base per generation and a rate of 1.26 × 10−9 for <20 bp indels. By quantifying how estimates varied as a function of allele frequency, we inferred the probability that a site is involved in non-crossover gene conversion as 5.99 × 10−6. We found that recombination does not have observable mutagenic effects after gene conversion is accounted for and that local gene-conversion rates reflect recombination rates. We detected a strong enrichment of recent deleterious variation among mismatching variants found within IBD regions and observed summary statistics of local sharing of IBD segments to closely match previously proposed metrics of background selection; however, we found no significant effects of selection on our mutation-rate estimates. We detected no evidence of strong variation of mutation rates in a number of genomic annotations obtained from several recent studies. Our analysis suggests that a mutation-rate estimate higher than that reported by recent pedigree-based studies should be adopted in the context of DNA-based demographic reconstruction. 相似文献
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Mohammed Mamdani Vernell Williamson Gowon O. McMichael Tana Blevins Fazil Aliev Amy Adkins Laura Hack Tim Bigdeli Andrew D. van der Vaart Bradley Todd Web Silviu-Alin Bacanu Gursharan Kalsi COGA Consortium Kenneth S. Kendler Michael F. Miles Danielle Dick Brien P. Riley Catherine Dumur Vladimir I. Vladimirov 《PloS one》2015,10(9)
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Jada Benn Torres Victoria Martucci Melinda C. Aldrich Miguel G. Vilar Taryn MacKinney Muhammad Tariq Jill B. Gaieski Ricardo Bharath Hernandez Zoila E. Browne Marlon Stevenson Wendell Walters Theodore G. Schurr The Genographic Consortium 《American journal of physical anthropology》2019,169(3):482-497
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Genomic Resources Development Consortium Mariella Baratti Federica Cattonaro Tiziana Di Lorenzo Diana Maria Paola Galassi Valentina Iannilli Alessio Iannucci Just Jensen Peter Foged Larsen Rasmus O. Nielsen Cino Pertoldi Dragos Postolache Jose Martin Pujolar Ettore Randi Aritz Ruiz‐Gonzalez Janne Pia Thirstrup Giovanni Giuseppe Vendramin Andrzej Zalewski 《Molecular ecology resources》2015,15(2):458-459
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Genomic Resources Development Consortium Wolfgang Arthofer Laura Bertini Carla Caruso Francesco Cicconardi Lynda F. Delph Peter D. Fields Minoru Ikeda Yuki Minegishi Silvia Proietti Heike Ritthammer Birgit C. Schlick‐Steiner Florian M. Steiner Gregor A. Wachter Herbert C. Wagner Laura A. Weingartner 《Molecular ecology resources》2015,15(4):1014-1015
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Genomic Resources Development Consortium P. Álvarez Wolfgang Arthofer Maria M. Coelho D. Conklin A. Estonba Ana R. Grosso S. J. Helyar J. Langa Miguel P. Machado I. Montes Joana Pinho Alexander Rief Manfred Schartl Birgit C. Schlick‐Steiner Julia Seeber Florian M. Steiner C. Vilas 《Molecular ecology resources》2015,15(6):1510-1512