Sunday, August 1, 2010

What is the genotype and phenotype variation in humans? Here is a study to sort it out:

The aim of the 1000 Genomes Project is to discover, genotype and provide accurate haplotype information on all forms of human DNA polymorphism in multiple human populations. Specifically, the goal is to characterize over 95% of variants that are in genomic regions accessible to current high-throughput sequencing technologies and that have allele frequency of 1% or higher (the classical definition of polymorphism) in each of five major population groups (populations in or with ancestry from Europe, East Asia, South Asia, West Africa and the Americas). Because functional alleles are often found in coding regions and have reduced allele frequencies, lower frequency alleles (down towards 0.1%) will also be catalogued in such regions.

http://www.nature.com/nature/journal/v467/n7319/full/nature09534.html

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