Objectives: Identifying drivers of complex traits from the noisy signals of genetic variation obtained from high-throughput genome sequencing technologies is a central challenge faced by human genetic
The probability of identifying rare variants with equal frequencies in samples of randomly ascertained individuals when the rare variants residue on separate haplotypes. (0.05 MB DOC)
Genome-wide association studies have revealed a vast amount of common loci associated to human complex diseases. Still, a large proportion of heritability remains unexplained. The extent to which rare