Targeted, haplotype-resolved resequencing of long segments of the human genome
نویسندگان
چکیده
منابع مشابه
SNP-specific extraction of haplotype-resolved targeted genomic regions
The availability of genotyping platforms for comprehensive genetic analysis of complex traits has resulted in a plethora of studies reporting the association of specific single-nucleotide polymorphisms (SNPs) with common diseases or drug responses. However, detailed genetic analysis of these associated regions that would correlate particular polymorphisms to phenotypes has lagged. This is prima...
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Independent determination of both haplotype sequences of an individual genome is essential to relate genetic variation to genome function, phenotype, and disease. To address the importance of phase, we have generated the most complete haplotype-resolved genome to date, "Max Planck One" (MP1), by fosmid pool-based next generation sequencing. Virtually all SNPs (>99%) and 80,000 indels were phase...
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Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million single nucleotide polymorphisms (SNPs) for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially al...
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For the past several years, human biologists have eagerly awaited the completion of the human genome sequence. The draft sequence, an incomplete yet remarkably useful tool to geneticists, has been available for almost two years, and the finished version is expected by April 2003. While this sequence will still contain gaps, it will be highly accurate (less than one sequencing error every 10,000...
متن کاملA haplotype map of the human genome
Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million single nucleotide polymorphisms (SNPs) for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially al...
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ژورنال
عنوان ژورنال: Genomics
سال: 2005
ISSN: 0888-7543
DOI: 10.1016/j.ygeno.2005.08.013