Article
Novel multi-nucleotide polymorphisms in the human genome characterized by whole genome and exome sequencing.
Nucleic acids research - 1 Oct 2010
Rosenfeld Jeffrey A, Malhotra Anil K, Lencz Todd
Abstract excerpt
Genomic sequence comparisons between individuals are usually restricted to the analysis of single nucleotide polymorphisms (SNPs). While the interrogation of SNPs is efficient, they are not the only form of divergence between genomes. In this report, we expand the scope of polymorphism detection by investigating the occurrence of double nucleotide polymorphisms (DNPs) and triple nucleotide polymorphisms (TNPs),...
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