Genetics

Even as the number of sequenced genomes is growing rapidly, the process of assembling sequencing data into a genome remains exceptionally challenging. The difficulty is due to the fact that current technologies are unable to sequence a whole genome in one pass, relying instead on the shotgun method: the genome is broken into many small segments (reads) whose sequence is then determined. The information about the location of these reads in the genome is lost, and the assembler must put them back together using the information about the overlaps between the reads.

Complex traits, such as susceptibility to diabetes, cancer or tuberculosis, which vary in human and natural populations, are determined by multiple genetic and environmental factors that interact with one another in complicated ways. This interaction depends upon population characteristics as well as characteristics of the individual and the family.