The final analysis was published in the Sept. 16 issue of Nature.
Chromosome 5 is the largest yet completed, with 180.9 million bases and 923 genes, including 66 known disease genes. Another 14 diseases are linked to chromosome 5.
One duplicated region on chromosome 5 could eventually help explain how spinal muscular dystrophy is inherited. The region contains many duplications and other rearrangements that vary between individuals, leading to a possible explanation of differences in the disease's severity.