Chromosome dosage analysis by whole genome sequencing

Example of chromosome dosage plots. Red diamonds mark the approximate location of the centromere. Sample 1 a diploid individual with normal chromosome dosage while Sample 2 is an individual that has an extra copy of Chr3 (referred to as a primary Chr3 trisomic).

The entire protocol for chromosome dosage analysis -- from DNA extraction, to library construction, to data analysis is available from bioprotocol.