Proceedings of the National Academy of Sciences · 2010 · 102 citations · 20 references
Life SciencesGeneticsMolecular GeneticsGenomic Data AnalysisGenomicsMedical GeneticsDna SequencingGenome SequencingNext-generation SequencingPhase Information
The two haploid genome sequences that a person inherits from the two parents represent the most fundamentally useful type of genetic information for the study of heritable diseases and the development of personalized medicine. Because of the difficulty in obtaining long-range phase information, current sequencing methods are unable to provide this information. Here, we introduce and show feasibility of a scalable approach capable of generating genomic sequences completely phased across the entire chromosome.
20
A haplotype map of the human genome
A second generation human haplotype map of over 3.1 million SNPs
Sarah S. Murray, Todd A. Johnson · Nature · 2007 · 4.6K citations · Full text
Detecting recent positive selection in the human genome from haplotype structure
Pardis C. Sabeti, David Reich, John M. Higgins et al. · Nature · 2002 · 2.2K citations
The Diploid Genome Sequence of an Individual Human
Samuel Lévy, Granger Sutton, Pauline C. Ng et al. · PLoS Biology · 2007 · 1.8K citations · Full text