A new biophysical metric for interrogating the information content in human genome sequence variation: Proof of concept.

ABSTRACT: The 21^st century emergence of genomic medicine is shifting the paradigm in biomedical science from the population phenotype to the individual genotype. In characterizing the biology of disease and health disparities in population genetics, human populations are often defined by the most common alleles in the group. This definition poses difficulties when categorizing individuals in the population who do not have the most common allele(s). Various epidemiological studies have shown an association between common genomic variation, such as single nucleotide polymorphisms (SNPs), and common diseases. We hypothesize that information encoded in the structure of SNP haploblock variation in the human leukocyte antigen-disease related (HLA-DR) region of the genome illumines molecular pat

SUBMITTER: Lindesay J 

PROVIDER: S-EPMC3902476 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature