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The characterization of twenty sequenced human genomes
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نویسنده
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pelak k. ,shianna k.v. ,ge d. ,maia j.m. ,zhu m. ,smith j.p. ,cirulli e.t. ,fellay j. ,dickson s.p. ,gumbs c.e. ,heinzen e.l. ,need a.c. ,ruzzo e.k. ,singh a. ,campbell c.r. ,hong l.k. ,lornsen k.a. ,mckenzie a.m. ,sobreira n.l.m. ,hoover-fong j.e. ,milner j.d. ,ottman r. ,haynes b.f. ,goedert j.j. ,goldstein d.b.
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منبع
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plos genetics - 2010 - دوره : 6 - شماره : 9
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چکیده
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We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute. we sequenced at high coverage ten case genome to a phenotype of interests from individuals with severe hemophilia a and ten control genomes. we summarize the number of genetic variants emerging from a study of this magnitude,and provide a proof of concept for the identification of rare and highly-penetrant functional variants by confirming that the cause of hemophilia a is easily recognizable in this data set. we also show that the number of novel single nucleotide variants (snvs) discovered per genome seems to stabilize at about 144,000 new variants per genome,after the first 15 individuals have been sequenced. finally,we find that,on average,each genome carries 165 homozygous protein-truncating or stop loss variants in genes representing a diverse set of pathways.
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آدرس
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center for human genome variation,duke university school of medicine,durham,nc, United States, center for human genome variation,duke university school of medicine,durham,nc, United States, center for human genome variation,duke university school of medicine,durham,nc, United States, center for human genome variation,duke university school of medicine,durham,nc, United States, center for human genome variation,duke university school of medicine,durham,nc, United States, center for human genome variation,duke university school of medicine,durham,nc, United States, center for human genome variation,duke university school of medicine,durham,nc, United States, center for human genome variation,duke university school of medicine,durham,nc, United States, center for human genome variation,duke university school of medicine,durham,nc, United States, center for human genome variation,duke university school of medicine,durham,nc, United States, center for human genome variation,duke university school of medicine,durham,nc, United States, center for human genome variation,duke university school of medicine,durham,nc, United States, center for human genome variation,duke university school of medicine,durham,nc, United States, center for human genome variation,duke university school of medicine,durham,nc, United States, center for human genome variation,duke university school of medicine,durham,nc, United States, center for human genome variation,duke university school of medicine,durham,nc, United States, center for human genome variation,duke university school of medicine,durham,nc, United States, center for human genome variation,duke university school of medicine,durham,nc, United States, mckusick-nathans institute of genetic medicine,johns hopkins university school of medicine,baltimore,md, United States, mckusick-nathans institute of genetic medicine,johns hopkins university school of medicine,baltimore,md, United States, allergic inflammation unit,laboratory of allergic diseases,national institute of allergy and infectious diseases,bethesda,md, United States, g. h. sergievsky center and departments of epidemiology and neurology,columbia university,new york,ny,united states,division of epidemiology,new york state psychiatric institute,new york,ny, United States, duke human vaccine institute,duke university,durham,nc, United States, infections and immunoepidemiology branch,division of cancer epidemiology and genetics,national cancer institute,rockville,md, United States, center for human genome variation,duke university school of medicine,durham,nc, United States
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Authors
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