The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and *** we present results of the pilot phase of ...
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The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and *** we present results of the pilot phase of the project,designed to develop and compare different strategies for genome-wide sequencing with high-throughput *** undertook three projects:low-coverage whole-genome sequencing of 179 individuals from four populations;high-coverage sequencing of two mother-father-child trios;and exon-targeted sequencing of 697 individuals from seven *** describe the location,allele frequency and local haplotype structure of approximately 15 million single nucleotide polymorphisms,1 million short insertions and deletions,and 20,000 structural variants,most of which were previously *** show that,because we have catalogued the vast majority of common variation,over 95%of the currently accessible variants found in any individual are present in this data *** average,each person is found to carry approximately 250 to 300 loss-of-function variants in annotated genes and 50 to 100 variants previously implicated in inherited *** demonstrate how these results can be used to inform association and functional *** the two trios,we directly estimate the rate of de novo germline base substitution mutations to be approximately 10 per base pair per *** explore the data with regard to signatures of natural selection,and identify a marked reduction of genetic variation in the neighbourhood of genes, due to selection at linked *** methods and public data will support the next phase of human genetic research.
It is often observed that great scientists originate from distinguished teachers.Jü rgen Zierep is no exception to *** scientific background can be traced back to eminent scientists like ***,***,and *** Koschmieder n...
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It is often observed that great scientists originate from distinguished teachers.Jü rgen Zierep is no exception to *** scientific background can be traced back to eminent scientists like ***,***,and *** Koschmieder not only was the admired teacher,who raised his student's interest in meteorologi-
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