The Clark Phase-able Sample Size Problem: Long-Range Phasing and Loss of Heterozygosity in GWAS

A phase transition is taking place today. The amount of data generated by genome resequencing technologies is so large that in some cases it is now less expensive to repeat the experiment than to store the information generated by the experiment. In the next few years it is quite possible that millions of Americans will have been genotyped. The question then arises of how to make the best use of this information and jointly estimate the haplotypes of all these individuals. The premise of the paper is that long shared genomic regions (or tracts) are unlikely unless the haplotypes are identical by descent (IBD), in contrast to short shared tracts which may be identical by state (IBS). Here we estimate for populations, using the US as a model, what sample size of genotyped individuals would be necessary to have sufficiently long shared haplotype regions (tracts) that are identical by descent (IBD), at a statistically significant level. These tracts can then be used as input for a Clark-l...

• Type: Conference
• Year: 2010
• Where: RECOMB
• Authors: Bjarni V. Halldórsson, Derek Aguiar, Ryan Tarpine, Sorin Istrail
• Keywords: Clark-like Phasing Method, Computational Biology, Phasing, RECOMB 2010, Short Shared Tracts