Experimental Generation of SNP Haplotype Signatures in Patients with Sickle Cell Anaemia

@inproceedings{Menzel2010ExperimentalGO,
  title={Experimental Generation of SNP Haplotype Signatures in Patients with Sickle Cell Anaemia},
  author={Stephan Menzel and Jian Qin and Nisha Vasavda and Swee Lay Thein and Ramesh Ramakrishnan},
  booktitle={PloS one},
  year={2010}
}
BACKGROUND Sickle cell anemia is caused by a single type of mutation, a homozygous A→T substitution in the ß globin gene. Clinical severity is diverse, partially due to additional, disease-modifying genetic factors. We are studying one such modifier locus, HMIP (HBS1L-MYB intergenic polymorphism, chromosome 6q23.3). Working with a genetically admixed patient population, we have encountered the necessity to generate haplotype signatures of genetic markers to label genomic fragments with distinct… CONTINUE READING

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Genome-wide association studies in pharmacogenomics

Nature Reviews Genetics • 2010
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