Article
A comprehensively molecular haplotype-resolved genome of a European individual.
Genome research - 1 Oct 2011
Suk Eun-Kyung, McEwen Gayle K, Duitama Jorge, Nowick Katja, Schulz Sabrina, Palczewski Stefanie, Schreiber Stefan, Holloway Dustin T, McLaughlin Stephen, Peckham Heather, Lee Clarence, Huebsch Thomas, Hoehe Margret R
Abstract excerpt
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 phased into haploid...
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