Identity by Descent Genome Segmentation Based on Single Nucleotide Polymorphism Distributions

Proceedings Of The Seventh International Conference On Intelligent Systems For Molecular Biology

Volume

Proceedings Of The Seventh International Conference On Intelligent Systems For Molecular Biology

Contents

In the course of our efforts to build extended regions of human genomic sequence by assembling individual BAC sequences, we have encountered several instances where a region of the genome has been sequenced independently using reagents derived from two different individuals. Comparing these sequences allows us to analyze the frequency and distribution of single nucleotide polymorphisms (SNPs) in the human genome. The observed transition/transversion frequencies are consistent with a biological origin for the sequence discrepancies, and this suggests that the data produced by large sequencing centers are accurate enough to be used as the basis for SNP analysis. The observed distribution of single nucleotide polymorphisms in the human genome is not uniform.