Homo sapiens Map

This project includes a dataset of next generation mate-pair sequencing from four family members, who are carriers of localized complex genomic rearrangements, termed chromothripsis. The genomic DNA from blood leukocytes of the individuals were mate-pair sequenced to detect the breakpoints involved in chromothripsis and identify the interrupted genes and their clinical impact. By sequencing four family members from three generations we have shown that chromothripsis is stably segregated from one generation to the next and no additional rearrangements occurred.