Sequencing of isolated sperm cells for direct haplotyping of a human genome.
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ABSTRACT:
SUBMITTER: Kirkness EF
PROVIDER: S-EPMC3638138 | biostudies-literature | 2013 May
REPOSITORIES: biostudies-literature
Publications
Sequencing of isolated sperm cells for direct haplotyping of a human genome.
Kirkness Ewen F EF Grindberg Rashel V RV Yee-Greenbaum Joyclyn J Marshall Christian R CR Scherer Stephen W SW Lasken Roger S RS Venter J Craig JC
Genome research 20130102 5
There is increasing evidence that the phenotypic effects of genomic sequence variants are best understood in terms of variant haplotypes rather than as isolated polymorphisms. Haplotype analysis is also critically important for uncovering population histories and for the study of evolutionary genetics. Although the sequencing of individual human genomes to reveal personal collections of sequence variants is now well established, there has been slower progress in the phasing of these variants int ...[more]
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